Journal articles on the topic 'Red cells disorder'
To see the other types of publications on this topic, follow the link: Red cells disorder.
Create a spot-on reference in APA, MLA, Chicago, Harvard, and other styles
Consult the top 50 journal articles for your research on the topic 'Red cells disorder.'
Next to every source in the list of references, there is an 'Add to bibliography' button. Press on it, and we will generate automatically the bibliographic reference to the chosen work in the citation style you need: APA, MLA, Harvard, Chicago, Vancouver, etc.
You can also download the full text of the academic publication as pdf and read online its abstract whenever available in the metadata.
Browse journal articles on a wide variety of disciplines and organise your bibliography correctly.
1
Francis, David M., Sheryl A. Barringer, and Robert E. Whitmoyer. "Ultrastructural Characterization of Yellow Shoulder Disorder in a Uniform Ripening Tomato Genotype." HortScience 35, no. 6 (October 2000): 1114–17. http://dx.doi.org/10.21273/hortsci.35.6.1114.
Full textAbstract:
Yellow shoulder disorder (YSD) is characterized by sectors of yellow or green tissue under the peel of uniform ripening tomato (Lycopersicon esculentum Mill.) fruit. Tissues excised from sectors of fruit expressing YSD, from adjacent red sectors, and from mature green fruit were used to compare the ultrastructural alterations in cells and tissue affected by YSD and to determine whether the disorder is caused by delayed fruit maturation or by aberrant development. Cells from YSD sectors were smaller than those from both adjacent red-ripe tissue and mature green fruit. The smaller cells from the YSD sectors were at a different developmental stage than cells of the adjacent red-ripe tissue. Chromoplasts in red-ripe tissue were more advanced in development than those in YSD sectors or mature green fruit. Using the transition from chloroplast to chromoplast and the degradation of the middle lamella between adjacent cells as developmental markers, the maturity of tissue from YSD sectors appeared to be equal or greater than that of tissue from mature green fruit. However, cell enlargement, which takes place early in fruit development, was retarded in YSD sectors. Therefore, the ultrastructural features of YSD are not compatible with a delayed ripening model for this blotchy ripening disorder. These observations provide a basis for comparing YSD in uniformly ripening tomatoes with other blotchy ripening disorders.
2
Yektas, Cigdem, Ali Tufan, Onder Kilicaslan, Merve Yazici, Sumeyra Karakaya, and Enes Sarigedik. "Elevated Monocyte Levels Maybe a Common Peripheral Inflammatory Marker in Specific Learning Disorders and Attention Deficit/Hyperactivity Disorder." Psychiatry and Behavioral Sciences 12, no. 3 (2022): 125. http://dx.doi.org/10.5455/pbs.20210518080022.
Full textAbstract:
Aim: the primary aim of this study was to determine whether the neutrophil / lymphocyte ratio, mean platelet volume, monocyte/ lymphocyte ratio and distribution width of red blood cells are different in children with specific learning disorders compared to healthy controls. The second aim of the study is to investigate the relationships of those inflammatory markers with SLDs clinical severity. Methods: A total of 100 drug-naive participants, aged 7-12 years, who were newly diagnosed as having specific learning disorders according to the DSM-5 criteria were compared with a healthy control group of 75 age, sex matched children. the neutrophil / lymphocyte ratio, mean platelet volume, monocyte/ lymphocyte ratio and distribution width of red blood cells were measured according to the complete blood count. Results: specific learning disorders significantly affected monocyte levels and tended to affect monocyte/ lymphocyte ratio and neutrophil levels while attention deficit hyperactivity disorder diagnosis significantly affected monocyte levels and mean platelet volume and also tended to affect distribution width of red blood cells. Specific learning disorders symptom severity did not correlate significantly with peripheral inflammatory markers. Conclusions: This study is the first to investigate the effect of peripheral inflammatory markers in a large specific learning disorders sample by controlling attention deficit hyperactivity disorder comorbidity. The findings demonstrated that the monocyte levels are higher in both specific learning disorders and attention deficit hyperactivity disorder groups suggesting that elevated monocyte levels may be a common marker in the inflammatory pathophysiology.
3
Yang, Yang, Xiaopeng Zhao, Hui Liu, and Jiankai Xiang. "Blue–green–red light left-handed metamaterials from disorder dendritic cells." Journal of Materials Science: Materials in Electronics 24, no. 9 (May 1, 2013): 3330–37. http://dx.doi.org/10.1007/s10854-013-1251-x.
Full text
4
Izzati Binti Che Marzuki, Nurhanis Izzati Binti Che Marzuki, Nasrul Humaimi bin Mahmood Humaimi bin Mahmood, and Mohd Azhar bin Abdul Razak. "Identification of Thalassemia Disorder using Active Contour." Indonesian Journal of Electrical Engineering and Computer Science 6, no. 1 (April 1, 2017): 160. http://dx.doi.org/10.11591/ijeecs.v6.i1.pp160-165.
Full textAbstract:
Thalassemia was known as the red blood cell (RBC) morphology disorder. This disease mostly affects the shape of the red blood cells. Thalassemia becomes the major public health problem when one of the people becomes the carrier of the disease. It can occur within a months after birth or even before birth and results in inappropriate growth and development of babies. Sometimes the affected babies will die shortly after birth. In order to screen thalassemia, there are a few tests need to be done. Firstly by performed Complete Blood Count (CBC) and secondly continued with hemoglobin electrophoresis test. This CBC test will identify the morphology of RBC. Hence, this paper will discuss the methods on identifying the morphology of thalassemia blood cells by using active contour technique. From the result of 16 normal and abnormal blood cell images, the active countour methods able to identifyThalassemia blood cells with accuracy of 90% from the abnormal cell images.
5
Ciccoli, Lucia, Claudio De Felice, Silvia Leoncini, Cinzia Signorini, Alessio Cortelazzo, Gloria Zollo, Alessandra Pecorelli, Marcello Rossi, and Joussef Hayek. "Red blood cells in Rett syndrome: oxidative stress, morphological changes and altered membrane organization." Biological Chemistry 396, no. 11 (November 1, 2015): 1233–40. http://dx.doi.org/10.1515/hsz-2015-0117.
Full textAbstract:
Abstract In this review, we summarize the current evidence on the erythrocyte as a previously unrecognized target cell in Rett syndrome, a rare (1:10 000 females) and devastating neurodevelopmental disorder caused by loss-of-function mutations in a single gene (i.e. MeCP2, CDKL5, or rarely FOXG1). In particular, we focus on morphological changes, membrane oxidative damage, altered membrane fatty acid profile, and aberrant skeletal organization in erythrocytes from patients with typical Rett syndrome and MeCP2 gene mutations. The beneficial effects of ω-3 polyunsaturated fatty acids (PUFAs) are also summarized for this condition to be considered as a ‘model’ condition for autism spectrum disorders.
6
H. Al-khafaji, Kawther, and Athraa H. Al-khafaji. "Diagnoses of Blood Disorder in Different Animal Species Depending on Counting Methods in Blood Cell Images." International Journal of Engineering & Technology 7, no. 4.36 (December 9, 2018): 660. http://dx.doi.org/10.14419/ijet.v7i4.36.24218.
Full textAbstract:
Counting of red blood cells (RBCs) in microscope blood cell images, can give the pathologists valuable information regarding various hematological disorders, like anemia, leukemia,....etc. in several animal species, in this paper, an automated vision system has been developed which is capable of counting of red blood cells, in blood samples by applying different algorithms, based on red blood cellshape, the difference in the red blood cell shape of animal species make it difficult to use a one algorithm, therefore, for each animal species used specific algorithm which was capable of counting of RBCs effectively.
7
Chakmakjian, Carl, and Ed Rappaport. "RBC Histogram Predictive of HE." Blood 106, no. 11 (November 16, 2005): 3706. http://dx.doi.org/10.1182/blood.v106.11.3706.3706.
Full textAbstract:
Abstract Hereditary elliptocytosis (HE) encompasses a family of inherited erythrocyte disorders characterized by red blood cells with an oval, elongated shape. Diagnosis is most commonly made upon peripheral smear examination. Although the disorder is usually clinically silent, these patients may have some degree of chronic hemolysis that may necessitate splenectomy on occasion. We report a consistent finding in HE common to most electronic cell counters. The red blood cell histogram reliably has a two to three millimeter elevation above baseline at the extreme left of the graph. This “foot” on the histogram is predictive of possible red blood cell elliptocytes. Please see example. Figure Figure
8
Vlachaki, Efthymia, Michael D. Diamantidis, Philippos Klonizakis, Styliani Haralambidou-Vranitsa, Elizabeth Ioannidou-Papagiannaki, and Ioannis Klonizakis. "Pure Red Cell Aplasia and Lymphoproliferative Disorders: An Infrequent Association." Scientific World Journal 2012 (2012): 1–7. http://dx.doi.org/10.1100/2012/475313.
Full textAbstract:
Pure red cell aplasia (PRCA) is a rare bone marrow failure syndrome defined by a progressive normocytic anaemia and reticulocytopenia without leukocytopenia and thrombocytopenia. Secondary PRCA can be associated with various haematological disorders, such as chronic lymphocytic leukaemia (CLL) or non-Hodgkin lymphoma (NHL). The aim of the present review is to investigate the infrequent association between PRCA and lymphoproliferative disorders. PRCA might precede the appearance of lymphoma, may present simultaneously with the lymphoid neoplastic disease, or might appear following the lymphomatic disorder. Possible pathophysiological molecular mechanisms to explain the rare association between PRCA and lymphoproliferative disorders are reported. Most cases of PRCA are presumed to be autoimmune mediated by antibodies against either erythroblasts or erythropoietin, by T-cells secreting factors selectively inhibiting erythroid colonies in the bone marrow or by NK cells directly lysing erythroblasts. Finally, focus is given to the therapeutical approach, as several treatment regimens have failed for PRCA. Immunosuppressive therapy and/or chemotherapy are effective for improving anaemia in the majority of patients with lymphoma-associated PRCA. Further investigation is required to define the pathophysiology of PRCA at a molecular level and to provide convincing evidence why it might appear as a rare complication of lymphoproliferative disorders.
9
Koju, Surendra, and Ramesh Makaju. "Hereditary Spherocytosis." Journal of Lumbini Medical College 6, no. 1 (June 22, 2018): 41–43. http://dx.doi.org/10.22502/jlmc.v6i1.202.
Full textAbstract:
Introduction: Hereditary spherocytosis is a red cell membrane disorder that causes hemolytic anemia. Due to defective cell membrane, red cells are spherical shaped and result in their early lysis. Osmotic fragility of spherocytic red cell is increased.
Case report: A 22 year old female presented with chief complain of abdominal pain. Initially she was diagnosed as cholelithiasis. Under laboratory evaluation she was found to be anemic with reticulocytosis. In peripheral blood smear, spherocytes were moderately distributed. Antihuman globulin test was negative but osmotic fragility was high. Hence, she was confirmed as case of hereditary spherocytosis.
Conclusion: Hereditary spherocytosis is a rare red cell disorder and its diagnosis can be made by osmotic fragility test.
10
Zhu, Yiwen, Chris Paszty, Tikva Turetsky, Susan Tsai, Frans A. Kuypers, Gloria Lee, Philip Cooper, et al. "Stomatocytosis Is Absent in “Stomatin”-Deficient Murine Red Blood Cells." Blood 93, no. 7 (April 1, 1999): 2404–10. http://dx.doi.org/10.1182/blood.v93.7.2404.
Full textAbstract:
Abstract To examine the relationship between erythrocyte membrane protein 7.2b deficiency and the hemolytic anemia of human hereditary stomatocytosis, we created 7.2b knock-out mice by standard gene targeting approaches. Immunoblots showed that homozygous knock-out mice completely lacked erythrocyte protein 7.2b. Despite the absence of protein 7.2b, there was no hemolytic anemia and mouse red blood cells (RBCs) were normal in morphology, cell indices, hydration status, monovalent cation content, and ability to translocate lipids. The absence of the phenotype of hereditary stomatocytosis implies that protein 7.2b deficiency plays no direct role in the etiology of this disorder and casts doubt on the previously proposed role of this protein as a mediator of cation transport in RBC.
11
Zhu, Yiwen, Chris Paszty, Tikva Turetsky, Susan Tsai, Frans A. Kuypers, Gloria Lee, Philip Cooper, et al. "Stomatocytosis Is Absent in “Stomatin”-Deficient Murine Red Blood Cells." Blood 93, no. 7 (April 1, 1999): 2404–10. http://dx.doi.org/10.1182/blood.v93.7.2404.407k13_2404_2410.
Full textAbstract:
To examine the relationship between erythrocyte membrane protein 7.2b deficiency and the hemolytic anemia of human hereditary stomatocytosis, we created 7.2b knock-out mice by standard gene targeting approaches. Immunoblots showed that homozygous knock-out mice completely lacked erythrocyte protein 7.2b. Despite the absence of protein 7.2b, there was no hemolytic anemia and mouse red blood cells (RBCs) were normal in morphology, cell indices, hydration status, monovalent cation content, and ability to translocate lipids. The absence of the phenotype of hereditary stomatocytosis implies that protein 7.2b deficiency plays no direct role in the etiology of this disorder and casts doubt on the previously proposed role of this protein as a mediator of cation transport in RBC.
12
Laurance, Sandrine, Mickaël Marin, and Yves Colin. "Red Blood Cells: A Newly Described Partner in Central Retinal Vein Occlusion Pathophysiology?" International Journal of Molecular Sciences 24, no. 2 (January 5, 2023): 1072. http://dx.doi.org/10.3390/ijms24021072.
Full textAbstract:
Central retinal vein occlusion (CRVO) is a frequent retinal disorder inducing blindness due to the occlusion of the central vein of the retina. The primary cause of the occlusion remains to be identified leading to the lack of treatment. To date, current treatments mainly target the complications of the disease and do not target the primary dysfunctions. CRVO pathophysiology seems to be a multifactorial disorder; several studies did attempt to decipher the cellular and molecular mechanisms underlying the vessel obstruction, but no consensual mechanism has been found. The aim of the current review is to give an overview of CRVO pathophysiology and more precisely the role of the erythroid lineage. The review presents emerging data on red blood cell (RBC) functions besides their role as an oxygen transporter and how disturbance of RBC function could impact the whole vascular system. We also aim to gather new evidence of RBC involvement in CRVO occurrence.
13
Ryazantseva, N. V., E. A. Stepovaya, M. V. Kolosova, and V. V. Novitsky. "Typical reaction of peripheral link of erythron in the pathological processes." Bulletin of Siberian Medicine 1, no. 1 (March 30, 2002): 29–35. http://dx.doi.org/10.20538/1682-0363-2002-1-29-35.
Full textAbstract:
A complex research of the structural-metabolic features and the functional status of erythrocytes in peripheric blood of people with mental disorder and somatic pathology was carried out. It was revealed that when having schizophrenia, exogenous mental deficiency, neurotic disorder, Alzheimer's disease, malignant neoplasm of different localization, chronicle nonspecific diseases, acute pneumonia, atherosclerotic affection of limbs’ arteries, heat injury there are evident abnormalities of albuminous and lipid composition of membrane of erythrocytes, change of microviscosic features of lipid phase and disorder of cationtransporting membrane system, disorganization of superficial architectonics and ultrastructure of red blood cells, their deformation and aggregative features. The discovery of nonspecific character of structural-functional disorders of erythrocytes in the pathological processes and conditions allows to suggest that there is typical reaction of peripheric link of erythrone.
14
De Franceschi, Lucia, Mariarita Bertoldi, Alessandro Matte, Sara Santos Franco, Antonella Pantaleo, Emanuela Ferru, and Franco Turrini. "Oxidative Stress andβ-Thalassemic Erythroid Cells behind the Molecular Defect." Oxidative Medicine and Cellular Longevity 2013 (2013): 1–10. http://dx.doi.org/10.1155/2013/985210.
Full textAbstract:
β-thalassemia is a worldwide distributed monogenic red cell disorder, characterized by the absence or reducedβ-globin chain synthesis. Despite the extensive knowledge of the molecular defects causingβ-thalassemia, less is known about the mechanisms responsible for the associated ineffective erythropoiesis and reduced red cell survival, which sustain anemia ofβ-thalassemia. The unbalance of alpha-gamma chain and the presence of pathological free iron promote a severe red cell membrane oxidative stress, which results in abnormalβ-thalassemic red cell features. These cells are precociously removed by the macrophage system through two mechanisms: the removal of phosphatidylserine positive cells and through the natural occurring antibody produced against the abnormally clustered membrane protein band 3. In the present review we will discuss the changes inβ-thalassemic red cell homeostasis related to the oxidative stress and its connection with production of microparticles and with malaria infection. The reactive oxygen species (ROS) are also involved in ineffective erythropoiesis ofβ-thalassemia through still partially known pathways. Novel cytoprotective systems such as ASHP, eIF2α, and peroxiredoxin-2 have been suggested to be important against ROS inβ-thalassemic erythropoiesis. Finally, we will discuss the results of the majorin vitroandin vivostudies with antioxidants inβ-thalassemia.
15
Wysokinski, Adam, and Ewa Szczepocka. "RED BLOOD CELLS PARAMETERS IN PATIENTS WITH ACUTE SCHIZOPHRENIA, UNIPOLAR DEPRESSION AND BIPOLAR DISORDER." Psychiatria Danubina 30, no. 3 (September 28, 2018): 323–30. http://dx.doi.org/10.24869/psyd.2018.323.
Full text
16
Mattè, Alessandro, Enrica Federti, Elena Tibaldi, Maria Luisa Di Paolo, Giovanni Bisello, Mariarita Bertoldi, Andrea Carpentieri, et al. "Tyrosine Phosphorylation Modulates Peroxiredoxin-2 Activity in Normal and Diseased Red Cells." Antioxidants 10, no. 2 (February 1, 2021): 206. http://dx.doi.org/10.3390/antiox10020206.
Full textAbstract:
Peroxiredoxin-2 (Prx2) is the third most abundant cytoplasmic protein in red blood cells. Prx2 belongs to a well-known family of antioxidants, the peroxiredoxins (Prxs), that are widely expressed in mammalian cells. Prx2 is a typical, homodimeric, 2-Cys Prx that uses two cysteine residues to accomplish the task of detoxifying a vast range of organic peroxides, H2O2, and peroxynitrite. Although progress has been made on functional characterization of Prx2, much still remains to be investigated on Prx2 post-translational changes. Here, we first show that Prx2 is Tyrosine (Tyr) phosphorylated by Syk in red cells exposed to oxidation induced by diamide. We identified Tyr-193 in both recombinant Prx2 and native Prx2 from red cells as a specific target of Syk. Bioinformatic analysis suggests that phosphorylation of Tyr-193 allows Prx2 conformational change that is more favorable for its peroxidase activity. Indeed, Syk-induced Tyr phosphorylation of Prx2 enhances in vitro Prx2 activity, but also contributes to Prx2 translocation to the membrane of red cells exposed to diamide. The biologic importance of Tyr-193 phospho-Prx2 is further supported by data on red cells from a mouse model of humanized sickle cell disease (SCD). SCD is globally distributed, hereditary red cell disorder, characterized by severe red cell oxidation due to the pathologic sickle hemoglobin. SCD red cells show Tyr-phosphorylated Prx2 bound to the membrane and increased Prx2 activity when compared to healthy erythrocytes. Collectively, our data highlight the novel link between redox related signaling and Prx2 function in normal and diseased red cells.
17
Al-Momin, Mohammed, and Ammar Almomin. "A MATLAB model for diagnosing sickle cells and other blood abnormalities using image processing." International Journal of Electrical and Computer Engineering (IJECE) 11, no. 6 (December 1, 2021): 5060. http://dx.doi.org/10.11591/ijece.v11i6.pp5060-5065.
Full textAbstract:
<span lang="EN-US">The conventional method for detecting blood abnormality is time consuming and lacks the high level of accuracy. In this paper a MATLAB based solution has been suggested to tackle the problem of time consumption and accuracy. Three types of blood abnormality have been covered here, namely, anemia which is characterized by low count of red blood cells (RBCs), Leukemia which is depicted by increasing the number of white blood cells (WBCs), and sickle cell blood disorder which is caused by a deformation in the shape of red cells. The algorithm has been tested on different images of blood smears and noticed to give an acceptable level of accuracy. Image processing techniques has been used here to detect the different types of blood constituents. Unlike many other researches, this research includes the blood sickling disorder which is epidemic in certain regions of the world, and offers a more accuracy than other algorithms through the use of detaching overlapped cells strategy.</span>
18
Khalyfa, Abdelnaby, and David Sanz-Rubio. "The Mystery of Red Blood Cells Extracellular Vesicles in Sleep Apnea with Metabolic Dysfunction." International Journal of Molecular Sciences 22, no. 9 (April 21, 2021): 4301. http://dx.doi.org/10.3390/ijms22094301.
Full textAbstract:
Sleep is very important for overall health and quality of life, while sleep disorder has been associated with several human diseases, namely cardiovascular, metabolic, cognitive, and cancer-related alterations. Obstructive sleep apnea (OSA) is the most common respiratory sleep-disordered breathing, which is caused by the recurrent collapse of the upper airway during sleep. OSA has emerged as a major public health problem and increasing evidence suggests that untreated OSA can lead to the development of various diseases including neurodegenerative diseases. In addition, OSA may lead to decreased blood oxygenation and fragmentation of the sleep cycle. The formation of free radicals or reactive oxygen species (ROS) can emerge and react with nitric oxide (NO) to produce peroxynitrite, thereby diminishing the bioavailability of NO. Hypoxia, the hallmark of OSA, refers to a decline of tissue oxygen saturation and affects several types of cells, playing cell-to-cell communication a vital role in the outcome of this interplay. Red blood cells (RBCs) are considered transporters of oxygen and nutrients to the tissues, and these RBCs are important interorgan communication systems with additional functions, including participation in the control of systemic NO metabolism, redox regulation, blood rheology, and viscosity. RBCs have been shown to induce endothelial dysfunction and increase cardiac injury. The mechanistic links between changes of RBC functional properties and cardiovascular are largely unknown. Extracellular vesicles (EVs) are secreted by most cell types and released in biological fluids both under physiological and pathological conditions. EVs are involved in intercellular communication by transferring complex cargoes including proteins, lipids, and nucleic acids from donor cells to recipient cells. Advancing our knowledge about mechanisms of RBC-EVs formation and their pathophysiological relevance may help to shed light on circulating EVs and to translate their application to clinical practice. We will focus on the potential use of RBC-EVs as valuable diagnostic and prognostic biomarkers and state-specific cargoes, and possibilities as therapeutic vehicles for drug and gene delivery. The use of RBC-EVs as a precision medicine for the diagnosis and treatment of the patient with sleep disorder will improve the prognosis and the quality of life in patients with cardiovascular disease (CVD).
19
Alia and Sada Abdulameer. "Study of Anemia Risk of Children in Wasit Governorate /Iraq." Wasit Journal of Pure sciences 1, no. 2 (September 1, 2022): 213–22. http://dx.doi.org/10.31185/wjps.53.
Full textAbstract:
Anemia is one of the most common diseases that children suffer from in the world and in Iraq in particular, are the blood disorders characterized by reduction in the number of circulating red blood cell, the amount of hemoglobin or the volume of packed red cells in blood. Chromosomal aberrations have often been reported from the bone marrow as well as cultured lymphocyte of anemia patients. The aim of study finds out the chromosomal changes of anemia patients involved in the disorder, then to study the chromosomal analysis for patients. The distribution of anemia patients according to the gender did not show any significant differences between male and female patients. The results showed that there is family history of anemia Cytogenetic analyses, specifically chromosomal analysis , were carried out on all samples
20
Okpala, Iheanyi. "The intriguing contribution of white blood cells to sickle cell disease – a red cell disorder." Blood Reviews 18, no. 1 (March 2004): 65–73. http://dx.doi.org/10.1016/s0268-960x(03)00037-7.
Full text
21
Asaad MA Abdallah. "Thalassemia and pregnancy complications." World Journal of Advanced Research and Reviews 14, no. 1 (April 30, 2022): 363–67. http://dx.doi.org/10.30574/wjarr.2022.14.1.0284.
Full textAbstract:
Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia. This abnormal alpha- to beta-chain ratio causes the unpaired chains to precipitate and causes destruction of red blood cell precursors in the bone marrow (ineffective erythropoiesis) and circulation (hemolysis). Affected individuals with thalassemia have variable degrees of anemia and extramedullary hematopoiesis, which in turn can cause bone changes, impaired growth, and iron overload. Recurrent pregnancy loss (RPL), also known as recurrent miscarriages, is defined by the consecutive loss of two or more pregnancies with the same partner and having no more than one living child. Objective of the current review was to determine the maternal and fetal outcomes of women complicated with thalassemia .Conclusion: There are many changes as complications of thalassemia and the stress of pregnancy can make the symptoms of thalassemia worse . pregnancy in thalassemia should be considered high risk and should always be preceded by a complete preconception assessment.
22
Alnajjar, Salwa A., Taher Tayeb, Abdulrahman Alboog, Tarek Elgemmezi, and Salwa Hindawi. "Frequency of Red Blood Cells Alloimmunization in Thalassemia Patients at King Abdulaziz University Hospital in Jeddah, Saudi Arabia." Journal of King Abdulaziz University - Medical Sciences 26, no. 2 (December 31, 2019): 1–8. http://dx.doi.org/10.4197/med.26-2.1.
Full textAbstract:
The aim of the study is to assess the alloimmunization rate to red blood cell in thalassemia patients at King Abdulaziz University Hospital. Thalassemia is the most common genetic disorder worldwide that represents a major public health problem and requires long life blood transfusion to the patients as the main treatment. Alloimmunization to the transfused red blood cell can cause hemolytic transfusion reactions and significantly complicate transfusion therapy. Screening and identification of alloantibodies and transfusion of extended phenotyped blood can minimize these risks. A retrospective study was conducted on 134 thalassemia patients at King Abdulaziz University Hospital in Jeddah. Patients’ samples were subjected to red cell typing, antibody screening and identifi cation of red blood cell antibodies. Alloimmunization in thalassemia patients was 20.15%; antibodies were mainly to the Rh and Kell blood group systems, the highest rate was for anti-E (32.4%) followed by anti-K (21.6%). Alloimmunization rate was the highest in the age group from > 10 – 20 years (40.7%). Red cell alloimmunization is a frequent event among thalassemia patient. A national protocol for screening and identifying of the red cell alloantibodies and transfusion of phenotype blood is required for proper management of these patients.
23
Tomin, Dragica. "Preoperative preparation of the patient with the abnormalities of red and white blood cells." Acta chirurgica Iugoslavica 58, no. 2 (2011): 77–82. http://dx.doi.org/10.2298/aci1102077t.
Full textAbstract:
The complete peripheral blood count analysis including laboratory screening tests of haemostasis and coagulation should be done in every patient before surgery, in order to detect specific abnormalities for primary or secundary haematologic disorder. These abnormalities might be very important couse of perioperative and postoperative complications. Anaemia is the most frequent haematologic abnormality seen during preoperative period. Therapy approach depends on the type and anaemia degree, and also on the type and time of surgery. If surgery is not urgent specific therapy according to the anaemia type (iron therapy, vitamin B12, folic acid, corticosteroids, recombinant erythropoietin) should be given in all anaemias with deficiency of iron, megaloblastic anaemias, acquired haemolytic anaemias and anaemias in end stage renal disease. Transfusion of red cells are most frequently given in patients with normovolemic anaemias with haemoglobin level of 10,0g/dl and hematocrit of 0,30, but lower levels in haemodynamic stable patients. Venesections should be done in patients with erythrocytosis in order to reduce total red cell volume, but taking into account the perioperative bleeding. Patients with leukocyte abnormalities suspected on primary haematologic disorder need urgent haematologic diagnostic procedures. In patients with leucocytosis the actual level of neutropenia is the bigger problem than the level of leucocytosis. In those patients treatment generally involves preventing infections, managing of febrile neutropenia with broad spectrum antibiotics and antifungal drugs, treatment with recombinant granulocyte hematopoetic factor, rarely transfusions of granulocyte concentrates and intravenous immunoglobulins.
24
Sheikh, Taha, Rakan Albalawy, Hina Shuja, Navkirat M. Kahlon, and Danae M. Hamouda. "Dysphagia with Blood Disorder? an Unusual Presentation for Paroxysmal Nocturnal Hemoglobinuria." Blood 136, Supplement 1 (November 5, 2020): 9–10. http://dx.doi.org/10.1182/blood-2020-141501.
Full textAbstract:
Paroxysmal Nocturnal Hemoglobinuria (PNH) is an acquired hemolytic disorder of the multipotent myeloid stem cells, due to underexpression of surface complement inhibitory proteins CD55 and CD59, affecting 0.13/100,000 patients per year. Besides anemia and thrombosis, PNH can also cause smooth muscle dystonias owing to various mechanisms in the body. Studies have described smooth muscle dystonias presenting as recurrent abdominal pain, lethargy and erectile dysfunction, but intermittent dysphagia is rare with PNH. We describe a case of dysphagia with negative work up as initial presentation of PNH. 16-year-old female with no significant past medical history presented to the clinic with 1 week of ongoing fatigue and difficulty swallowing. She never had any similar complaints in the past nor in her family. The dysphagia was progressively worsening, initially for solid, then with liquids, accompanied by nausea, vomiting and globus sensation in the middle chest. No prior psychiatric history, binging-purging behavior, chest pain, shortness of breath, heat/cold intolerance, weight changes, bladder or bowel dysfunction. She also denied any recent travels, allergies, transfusions, sick contacts, or over-the-counter medication use. Initial labwork showed Hb 11.2 g/dL, MCV 80 fL, WBC 9 x103 K/uL, and platelet 219,000 K/uL. Metabolic panel, troponin, BNP, ANA, rheumatoid factor, lyme serology, vitamin B12, folate and iron studies were within normal limits. Mentzer index <13, serum protein electrophoresis ruled out Thalassemia. LDH was elevated and Haptoglobin decreased. Direct and indirect Coomb's antibody test were negative. Peripheral smear showed normocytic normochromic anemia with normal morphology of RBCs. Flow cytometry showed lack of CD55 and CD59. Esophagogastroduodenoscopy, done for dysphagia, to rule out luminal obstruction was unremarkable. CT chest with contrast ruled out external compression on esophagus. Videofluoroscopic swallow study revealed segmental, dynamic obstruction to both solids and liquids in the lower third of the esophagus. Dysphagia was attributed to PNH and patient was started on eculizumab. She responded to the medication in 3 weeks, during which outpatient symptomatic therapy was given for her anemia along with soft semisolid diet. In PNH, the RBCs may have varying degree of CD59 and glycosyl phosphatidylinositol (GPI) anchor protein deficiency, with unaffected cells described as type I, partially affected cells called type II, and complete lack of the proteins deemed type III red cells. PNH red cell type III and type II red cells are 15 to 25 times and 3 to 5 times more sensitive to complement-mediated lysis than the type I normal red cells. This variability in the severity of the deficiency, as well as in the proportion of the cell population affected, defines the extent of the clinical manifestations of the disease. Approximately 40% of patients have a combination of types I, II and III PNH cells With hemolysis, after exceeding haptoglobin's binding capacity, the free hemoglobin binds any available nitrous oxide (NO) in the blood. Hemolysis also reduces endogenous NO generation by conversion of l-arginine, which is a component in NO generation, to ornithine, thereby further reducing the systemic availability of NO. NO is endogenous smooth muscle relaxor via activation of cGMP. Decreases in NO levels are hypothesized to cause smooth muscle contraction, manifesting as abdominal pain, erectile dysfunction and rarely, dysphagia in the lower two-third of the esophagus which is predominantly smooth muscle. These symptoms occur more commonly in patients with large PNH clone sizes and, therefore, higher hemolytic rates. In this case study, our focus was to recognize PNH among differentials for new onset dysphagia due to complement-mediated intravascular hemolysis causing gastrointestinal dysmotility. In doing so, invasive investigations may be avoided. Advance studies may be needed to completely understand the causes and correlate between PNH, intravascular hemolysis and dysphagia. Disclosures No relevant conflicts of interest to declare.
25
Abuljadayel, Ilham Saleh, Tasnim Ahsan, Huma Quereshi, Shakil Rizvi, Tamseela Ahmed, Sabiha Mirza Khan, Jawaid Akhtar, and Ghazi Dhoot. "Infusion of Autologous Retrodifferentiated Stem Cells into Patients with Beta-Thalassemia." Scientific World JOURNAL 6 (2006): 1278–97. http://dx.doi.org/10.1100/tsw.2006.229.
Full textAbstract:
Beta-thalassemia is a genetic, red blood cell disorder affecting the beta-globin chain of the adult hemoglobin gene. This results in excess accumulation of unpaired alpha-chain gene products leading to reduced red blood cell life span and the development of severe anemia. Current treatment of this disease involves regular blood transfusion and adjunct chelation therapy to lower blood transfusion–induced iron overload. Fetal hemoglobin switching agents have been proposed to treat genetic blood disorders, such as sickle cell anemia and beta-thalassemia, in an effort to compensate for the dysfunctional form of the beta-globin chain in adult hemoglobin. The rationale behind this approach is to pair the excess normal alpha-globin chain with the alternative fetal gamma-chain to promote red blood cell survival and ameliorate the anemia. Reprogramming of differentiation in intact, mature, adult white blood cells in response to inclusion of monoclonal antibody CR3/43 has been described. This form of retrograde development has been termed “retrodifferentiation”, with the ability to re-express a variety of stem cell markers in a heterogeneous population of white blood cells. This form of reprogramming, or reontogeny, to a more pluripotent stem cell state ought to recapitulate early hematopoiesis and facilitate expression of a fetal and/or adult program of hemoglobin synthesis or regeneration on infusion and subsequent redifferentiation. Herein, the outcome of infusion of autologous retrodifferentiated stem cells (RSC) into 21 patients with beta-thalassemia is described. Over 6 months, Infusion of 3-h autologous RSC subjected to hematopoietic-conducive conditions into patients with beta-thalassemia reduced mean blood transfusion requirement, increased mean fetal hemoglobin synthesis, and significantly lowered mean serum ferritin. This was always accompanied by an increase in mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC) in such patients. No adverse side effects in response to the infusion of autologous RSC were noted.This novel clinical procedure may profoundly modify the devastating course of many genetic disorders in an autologous setting, thus paving the way to harnessing pluripotency from differentiated cells to regenerate transiently an otherwise genetically degenerate tissue such as thalassemic blood.
26
Smith, Brian D., and George B. Segel. "Abnormal Erythrocyte Endothelial Adherence in Hereditary Stomatocytosis." Blood 89, no. 9 (May 1, 1997): 3451–56. http://dx.doi.org/10.1182/blood.v89.9.3451.
Full textAbstract:
Abstract Hereditary stomatocytosis is a red cell membrane protein disorder, which results in hemolytic anemia. Some patients with hereditary stomatocytosis experience dyspnea, chest pain, and abdominal pain, particularly after splenectomy. These symptoms may represent vaso-occlusion secondary to adherence of an abnormal erythrocyte membrane to vascular endothelium. We studied three members of a family with varying clinical expression of hereditary stomatocytosis. Adherence of red cells to endothelium was quantified by measuring the shear force required to separate individual cells from endothelial monolayers using a micropipette technique. Two patients with symptoms of in situ thromboses had a higher percentage of adherent cells compared with their asymptomatic sibling and normal controls. Correlation between this in vitro phenomenon and the clinical course suggests that flow abnormalities in the microcirculation attributable to erythrocyte endothelial adherence may play an important pathogenetic role in the illness. When the proportion of adherent red cells was reduced by a chronic transfusion program in one patient and pentoxifyllin therapy in another, the vaso-occlusive complications were eliminated.
27
Yamate, J., T. Izawa, M. Kuwamura, F. Mitsunaga, and S. Nakamura. "Vasoformative Disorder, Resembling Littoral Cell Angioma, of the Spleen in a Geriatric Japanese Macaque (Macaca fuscata)." Veterinary Pathology 46, no. 3 (January 27, 2009): 520–25. http://dx.doi.org/10.1354/vp.08-vp-0228-y-cr.
Full textAbstract:
A 30-year-old female Japanese macaque showed marked splenomegaly. The enlarged spleen consisted of neoplastic proliferation of anastomosing vascular channels resembling morphologic structures of red pulp sinuses; occasionally, papillary fronds were seen in dilated channels. Immunohistochemically, the lining cells reacted to both endothelial cell (von Willebrand factor) and macrophage (macrophage scavenger receptor class A) markers, indicating features of littoral cells of the spleen. Based on the pathologic characteristics, particularly the presence of neoplastic cells with macrophage/histiocyte-like attributes, this tumor was regarded as littoral cell angioma; this is a rare benign splenic vascular tumor.
28
Climent, Fina, Joan Cid, and Anna Sureda. "Cold Agglutinin Disease: A Distinct Clonal B-Cell Lymphoproliferative Disorder of the Bone Marrow." Hemato 3, no. 1 (February 13, 2022): 163–73. http://dx.doi.org/10.3390/hemato3010014.
Full textAbstract:
Cold agglutinin disease (CAD) is a distinct clinicopathologic entity characterized by clonal B-cell lymphoproliferative disorder in the bone marrow. B-cell gene mutations affect NF-ΚB as well as chromatin modification and remodeling pathways. Clonal immunoglobulins produced by B cells bind to red cells (RBCs) at cold temperatures causing RBC aggregation, complement cascade activation and cold-autoantibody autoimmune hemolytic anemia (cAIHA). The clinical picture shows cold-induced symptoms and cAIHA. Therapeutic options include “wait and watch”, rituximab-based regimens, and complement-directed therapies. Steroids must not be used for treating CAD. New targeted therapies are possibly identified after recent molecular studies.
29
Saima Abid, Muhammad Tahir, and Noor Saba. "Thalassemia & Covid-19 In Khyber Pakhtunkhwa (KP) Pakistan." Journal of Saidu Medical College, Swat 11, no. 3 (August 23, 2021): 121–22. http://dx.doi.org/10.52206/jsmc.2021.11.3.642.
Full textAbstract:
Thalassemia is a preventable hereditary disorder,each of the parent must be autosomal recessive tohave a child with serious symptoms of the majordisease. Thalassemia occurs due to abnormal ordeficient Hemoglobin (an iron containing proteins)in Red Blood cells. Depending upon the type ofproteins involved, there are two types ofThalassemia, aThalassemia and (3 Thalassemia 12
30
de Jong, Kitty, Sandra K. Larkin, Stefan Eber, Paul F. H. Franck, Ben Roelofsen, and Frans A. Kuypers. "Hereditary Spherocytosis and Elliptocytosis Erythrocytes Show a Normal Transbilayer Phospholipid Distribution." Blood 94, no. 1 (July 1, 1999): 319–25. http://dx.doi.org/10.1182/blood.v94.1.319.413a28_319_325.
Full textAbstract:
Phosphatidylserine (PS) asymmetry was determined in red blood cells from patients with hereditary spherocytosis and elliptocytosis. No PS-exposing subpopulations were detected using the very sensitive method with fluorescently labeled annexin V. Treatment withN-ethylmaleimide or adenosine triphosphate (ATP) depletion to inactivate the flipase did not lead to formation of PS-exposing subpopulations in these cells, but elevated intracellular calcium levels did lead to extensive scrambling of the PS asymmetry. Although interactions of the membrane skeleton with the phospholipid bilayer have been suggested to stabilize the asymmetric distribution of PS across the bilayer, our data show that red blood cells with a severely damaged membrane skeleton are able to preserve asymmetry, even under conditions in which restoration of the asymmetric distribution is excluded. Moreover, the loss of membrane asymmetry in these cells requires active scrambling involving high levels of intracellular calcium as in normal cells. Our data show that the severe disorder of the membrane skeleton found in these cells does not affect the activity of flipase or scramblase, indicating that these proteins are not regulated by, nor coupled to the membrane skeleton assembly, and that possible thrombotic events in spherocytosis patients are not likely associated with altered PS topology of the red blood cells.
31
Palomarez, Alexis, Manisha Jha, Ximena Medina Romero, and Renita E. Horton. "Cardiovascular consequences of sickle cell disease." Biophysics Reviews 3, no. 3 (September 2022): 031302. http://dx.doi.org/10.1063/5.0094650.
Full textAbstract:
Sickle cell disease (SCD) is an inherited blood disorder caused by a single point mutation within the beta globin gene. As a result of this mutation, hemoglobin polymerizes under low oxygen conditions causing red blood cells to deform, become more adhesive, and increase in rigidity, which affects blood flow dynamics. This process leads to enhanced red blood cell interactions with the endothelium and contributes to vaso-occlusion formation. Although traditionally defined as a red blood cell disorder, individuals with SCD are affected by numerous clinical consequences including stroke, painful crisis episodes, bone infarctions, and several organ-specific complications. Elevated cardiac output, endothelium activation along with the sickling process, and the vaso-occlusion events pose strains on the cardiovascular system. We will present a review of the cardiovascular consequences of sickle cell disease and show connections with the vasculopathy related to SCD. We will also highlight biophysical properties and engineering tools that have been used to characterize the disease. Finally, we will discuss therapies for SCD and potential implications on SCD cardiomyopathy.
32
Abdulkarim, Hajara Aliyu, Mohd Azhar Abdul Razak, Rubita Sudirman, and Norhafizah Ramli. "A deep learning AlexNet model for classification of red blood cells in sickle cell anemia." IAES International Journal of Artificial Intelligence (IJ-AI) 9, no. 2 (June 1, 2020): 221. http://dx.doi.org/10.11591/ijai.v9.i2.pp221-228.
Full textAbstract:
Sickle cell anemia (SCA) is a serious hematological disorder, where affected patients are frequently hospitalized throughout a lifetime and even can cause death. The manual method of detecting and classifying abnormal cells of SCA patient blood film through a microscope is time-consuming, tedious, prone to error, and require a trained hematologist. The affected patient has many cell shapes that show important biomechanical characteristics. Hence, having an effective way of classifying the abnormalities present in the SCA disease will give a better insight into managing the concerned patient's life. This work proposed algorithm in two-phase firstly, automation of red blood cells (RBCs) extraction to identify the RBC region of interest (ROI) from the patient’s blood smear image. Secondly, deep learning AlexNet model is employed to classify and predict the abnormalities presence in SCA patients. The study was performed with (over 9,000 single RBC images) taken from 130 SCA patient each class having 750 cells. To develop a shape factor quantification and general multiscale shape analysis. We reveal that the proposed framework can classify 15 types of RBC shapes including normal in an automated manner with a deep AlexNet transfer learning model. The cell's name classification prediction accuracy, sensitivity, specificity, and precision of 95.92%, 77%, 98.82%, and 90% were achieved, respectively.
33
Dekkers, David W. C., Paul Comfurius, Wim M. J. Vuist, Jeffrey T. Billheimer, Ira Dicker, Harvey J. Weiss, Robert F. A. Zwaal, and Edouard M. Bevers. "Impaired Ca2+-Induced Tyrosine Phosphorylation and Defective Lipid Scrambling in Erythrocytes From a Patient With Scott Syndrome: A Study Using an Inhibitor for Scramblase That Mimics the Defect in Scott Syndrome." Blood 91, no. 6 (March 15, 1998): 2133–38. http://dx.doi.org/10.1182/blood.v91.6.2133.
Full textAbstract:
Abstract Scott syndrome is an hereditary bleeding disorder characterized by a deficiency in platelet procoagulant activity. Unlike normal blood cells, Scott platelets, as well as erythrocytes and lymphocytes, are strongly impaired in their ability to scramble their membrane phospholipids when challenged with Ca2+. In normal cells this collapse of membrane asymmetry leads to surface exposure of phosphatidylserine. Here we report that Scott erythrocytes show an apparent defect in tyrosine phosphorylation on treatment with Ca2+-ionophore. Diminished tyrosine phosphorylation was also apparent in activated Scott platelets, but much less pronounced than observed in red blood cells. On the other hand, tyrosine phosphorylation profiles observed in Scott red blood cell ghosts after sealing in the presence of adenosine triphosphate (ATP) were indistinguishable from those obtained from normal ghosts. Several observations argue in favor of a mechanism in which tyrosine phosphorylation in red blood cells is facilitated by, rather than required for scrambling of membrane lipids. Staurosporin blocks tyrosine phosphorylation in normal red blood cells, but does not inhibit the lipid scrambling process. White ghosts from normal erythrocytes, resealed in the absence of ATP, exhibit Ca2+-induced lipid scrambling without tyrosine phosphorylation. A selective inhibitor of Ca2+-induced lipid scrambling also showed an apparent inhibition of tyrosine phosphorylation in ionophore-treated normal red blood cells, similar to that observed in Scott erythrocytes. While this inhibitor also suppressed Ca2+-induced lipid scrambling in ghosts that were sealed in the presence of ATP, it did not inhibit tyrosine kinase activity. We conclude that the apparent deficiency in tyrosine phosphorylation in Scott cells is an epiphenomenon, possibly associated with a defect in phospholipid scrambling, but not causal to this defect.
34
Dekkers, David W. C., Paul Comfurius, Wim M. J. Vuist, Jeffrey T. Billheimer, Ira Dicker, Harvey J. Weiss, Robert F. A. Zwaal, and Edouard M. Bevers. "Impaired Ca2+-Induced Tyrosine Phosphorylation and Defective Lipid Scrambling in Erythrocytes From a Patient With Scott Syndrome: A Study Using an Inhibitor for Scramblase That Mimics the Defect in Scott Syndrome." Blood 91, no. 6 (March 15, 1998): 2133–38. http://dx.doi.org/10.1182/blood.v91.6.2133.2133_2133_2138.
Full textAbstract:
Scott syndrome is an hereditary bleeding disorder characterized by a deficiency in platelet procoagulant activity. Unlike normal blood cells, Scott platelets, as well as erythrocytes and lymphocytes, are strongly impaired in their ability to scramble their membrane phospholipids when challenged with Ca2+. In normal cells this collapse of membrane asymmetry leads to surface exposure of phosphatidylserine. Here we report that Scott erythrocytes show an apparent defect in tyrosine phosphorylation on treatment with Ca2+-ionophore. Diminished tyrosine phosphorylation was also apparent in activated Scott platelets, but much less pronounced than observed in red blood cells. On the other hand, tyrosine phosphorylation profiles observed in Scott red blood cell ghosts after sealing in the presence of adenosine triphosphate (ATP) were indistinguishable from those obtained from normal ghosts. Several observations argue in favor of a mechanism in which tyrosine phosphorylation in red blood cells is facilitated by, rather than required for scrambling of membrane lipids. Staurosporin blocks tyrosine phosphorylation in normal red blood cells, but does not inhibit the lipid scrambling process. White ghosts from normal erythrocytes, resealed in the absence of ATP, exhibit Ca2+-induced lipid scrambling without tyrosine phosphorylation. A selective inhibitor of Ca2+-induced lipid scrambling also showed an apparent inhibition of tyrosine phosphorylation in ionophore-treated normal red blood cells, similar to that observed in Scott erythrocytes. While this inhibitor also suppressed Ca2+-induced lipid scrambling in ghosts that were sealed in the presence of ATP, it did not inhibit tyrosine kinase activity. We conclude that the apparent deficiency in tyrosine phosphorylation in Scott cells is an epiphenomenon, possibly associated with a defect in phospholipid scrambling, but not causal to this defect.
35
Tarig Osman Khalafallah Ahmed, Ekhlas Alrasheid Abu Elfadul, Ahmed A. Agab Eldour, and Omer Ibrahim Abdallah Mohammed. "The prevalence of leukocyte abnormalities among Sudanese patients with sickle cell disease." World Journal of Advanced Research and Reviews 9, no. 1 (January 30, 2021): 262–67. http://dx.doi.org/10.30574/wjarr.2021.9.1.0026.
Full textAbstract:
Sickle cell disease (SCD) is an inherited blood disorder that affects red blood cells. The study was conducted in Elobied town during the period May 2011 to September 2011. The aim of this study is to detect the abnormalities of leucocytes among sickle cell anemic patients. 40 sickle cell anemic patients; age range between 8 months to 23 years. Blood sample was taken for all patients and the laboratory investigation were performed using automated estimation for: hemoglobin (Hb), Packed cell volume (PCV), red cell count (RBCs), mean cell volume (MCV), mean cell hemoglobin (MCH), mean cell concentration (MCHC), and total white blood cells, comment on blood film using manual methods. The conclusion of this study there is increase in total white blood cells with shift to left in neutrophil precursor in sickle cell patients with complications ,the most immature cells are band form, myelocytes and metamyelocytes, and there also lymphocytosis and neutrophilia which has been increases in response to infections.
36
Khan, Mohammad Monirujjaman, Tahia Tazin, and Tabia Hossain. "An Automatic Blood Cell Separation Machine with Disease Detection System: Perspective in Bangladesh." Proceedings 67, no. 1 (November 9, 2020): 9. http://dx.doi.org/10.3390/asec2020-07547.
Full textAbstract:
Blood is a liquid that transports oxygen and supplements to cells and diverts carbon dioxide and other byproducts. Red blood cells principally carry oxygen and gather carbon dioxide using hemoglobin. Hereditary disease of the blood comprises hemoglobinopathies, which is a significant common health issue in Bangladesh. Sickle cell disorder alludes to the gathering of hereditary issues described by the presence of sickle hemoglobin, sickliness, schistocytes, intense and ongoing tissue injury and blockage of the bloodstream by anomalously formed red cells. Schistocytes are additionally a critical marker of a perilous condition affecting a human patient. In the cutting-edge setting, only the most modern computerized cell counters flag their administrators if a schistocyte is identified and few of them can provide a schistocyte tally. By analyzing these issues, in this paper, we propose to create an automatic system that will allow blood cells to be separated very quickly, and with this, blood diseases can be also identified.
37
Szablewski, Leszek, and Anna Sulima. "The structural and functional changes of blood cells and molecular components in diabetes mellitus." Biological Chemistry 398, no. 4 (April 1, 2017): 411–23. http://dx.doi.org/10.1515/hsz-2016-0196.
Full textAbstract:
Abstract It is known fact that diabetes mellitus (DM) affects blood cells. Changes in the erythrocyte membrane, disorder in hemoglobin oxygen-binding and modification in mechanical characteristics, are effects of hyperglycemia on red blood cells. Altered susceptibility infection of patients with diabetes has been ascribed to a depression in the function of polymorphonuclear leukocytes. Neutrophil function in patients with diabetes with good glucose control is slightly different than in healthy ones. DM causes significant changes in lymphocytes metabolism and their functions. Patients with diabetes, presenting with acute coronary syndrome, are at higher risk of cardiovascular complications and recurrent ischemic events in comparison to non-diabetic counterparts. Various mechanisms, including endothelial dysfunction, platelet hyperactivity, and abnormalities in coagulation and fibrynolysis have been implicated for this increased atherothrombotic risk. There are many other alterations of blood cells due to DM. In the present review we focused on modifications of blood cells due to DM. Then, as a second point, we explored how the changes affect functions of red blood cells, white blood cells and platelets.
38
Daminov, T. A., L. N. Tuychiev, G. K. Khudaykulova, Sh B. Rakhmatullaeva, and M. T. Muminva. "Hematological disorders in HIV-infected children on the background of antiretroviral therapy." HIV Infection and Immunosuppressive Disorders 13, no. 3 (October 24, 2021): 73–80. http://dx.doi.org/10.22328/2077-9828-2021-13-3-73-80.
Full textAbstract:
Introduction. In most cases, HIV infection in children is accompanied by the development of anemia.Objective: to study the nature of the disturbance of the cellular composition of blood in HIV-infected children on the background of antiretroviral therapy.Materials and methods. In the period from September 2015 to January 2017, 124 patients aged from 0 to 18 years old were examined with a diagnosis of HIV infection at various stages of its development. In all patients in the peripheral blood, the hemoglobin concentration, the absolute number of red blood cells, leukocytes and their varieties in a blood volume unit were determined, the hematocrit value was calculated.Results and discussion. Against the background of ongoing antiretroviral therapy, the formation of hypochromic anemia is associated with a consistent decrease in hemoglobin concentration and the number of circulating red blood cells to 104,86±2,80 g/l and to 3,81–3,67×1012/l, which may be accompanied by a decrease in their content in each erythrocyte and the appearance of macrocytic erythroid forms in circulating blood. Leukopenia develops due to the formation of an absolute deficiency of circulating lymphocytes and neutrophilic granulocytes.Conclusion. The specific assessment of cytopenia depends on the type of primary damage to the blood cells, and the choice of specific treatment depends on the type of disorder. Therefore, timely correction of these disorders could possibly reduce the development of the immunodeficiency state.
39
Zecca, Marco, Piero De Stefano, Bruno Nobili, and Franco Locatelli. "Anti-CD20 monoclonal antibody for the treatment of severe, immune-mediated, pure red cell aplasia and hemolytic anemia." Blood 97, no. 12 (June 15, 2001): 3995–97. http://dx.doi.org/10.1182/blood.v97.12.3995.
Full textAbstract:
Immune-mediated, acquired pure red cell aplasia (PRCA) is a rare disorder frequently associated with other autoimmune phenomena. Conventional immunosuppressive treatment is often unsatisfactory. Rituximab is a monoclonal antibody against the CD20 antigen, highly effective for in vivo B-cell depletion. An 18-month-old girl with both severe PRCA and autoimmune hemolytic anemia, refractory to immunosuppressive treatment, received 2 doses of rituximab, 375 mg/m2 per week. The drug was well tolerated. After anti-CD20 therapy, substitutive treatment with intravenous immunoglobulin was started. The treatment resulted in marked depletion of B cells; a striking rise in reticulocyte count ensued, with increasing hemoglobin levels, finally leading to transfusion independence. The child is now 5 months off-therapy, with normal hemoglobin and reticulocyte levels. This case suggests a role of anti-CD20 monoclonal antibody for treatment of patients with antibody-mediated hematologic disorders.
40
Parenti, Niccoló, Ambra Del Grosso, Claudia Antoni, Marco Cecchini, Renato Corradetti, Francesco S. Pavone, and Martino Calamai. "Direct imaging of APP proteolysis in living cells." PeerJ 5 (April 12, 2017): e3086. http://dx.doi.org/10.7717/peerj.3086.
Full textAbstract:
Alzheimer’s disease is a multifactorial disorder caused by the interaction of genetic, epigenetic and environmental factors. The formation of cytotoxic oligomers consisting of Aβ peptide is widely accepted as being one of the main key events triggering the development of Alzheimer’s disease. Aβ peptide production results from the specific proteolytic processing of the amyloid precursor protein (APP). Deciphering the factors governing the activity of the secretases responsible for the cleavage of APP is still a critical issue. Kits available commercially measure the enzymatic activity of the secretases from cells lysates, in vitro. By contrast, we have developed a prototypal rapid bioassay that provides visible information on the proteolytic processing of APP directly in living cells. APP was fused to a monomeric variant of the green fluorescent protein and a monomeric variant of the red fluorescent protein at the C-terminal and N-terminal (mChAPPmGFP), respectively. Changes in the proteolytic processing rate in transfected human neuroblastoma and rat neuronal cells were imaged with confocal microscopy as changes in the red/green fluorescence intensity ratio. The significant decrease in the mean red/green ratio observed in cells over-expressing the β-secretase BACE1, or the α-secretase ADAM10, fused to a monomeric blue fluorescent protein confirms that the proteolytic site is still accessible. Specific siRNA was used to evaluate the contribution of endogenous BACE1. Interestingly, we found that the degree of proteolytic processing of APP is not completely homogeneous within the same single cell, and that there is a high degree of variability between cells of the same type. We were also able to follow with a fluorescence spectrometer the changes in the red emission intensity of the extracellular medium when BACE1 was overexpressed. This represents a complementary approach to fluorescence microscopy for rapidly detecting changes in the proteolytic processing of APP in real time. In order to allow the discrimination between the α- and the β-secretase activity, we have created a variant of mChAPPmGFP with a mutation that inhibits the α-secretase cleavage without perturbing the β-secretase processing. Moreover, we obtained a quantitatively robust estimate of the changes in the red/green ratio for the above conditions by using a flow cytometer able to simultaneously excite and measure the red and green fluorescence. Our novel approach lay the foundation for a bioassay suitable to study the effect of drugs or particular conditions, to investigate in an unbiased way the the proteolytic processing of APP in single living cells in order, and to elucidate the causes of the variability and the factors driving the processing of APP.
41
Satué, K., and A. Muñoz. "Genetic Disorders Affecting Equine Blood Cells and Coagulation Factors: A-State-of-The-Art Review." Journal of Hematology Research 6 (March 8, 2019): 1–11. http://dx.doi.org/10.12974/2312-5411.2019.06.1.
Full textAbstract:
Genetic diseases that affect blood cells and clotting factors in the horse are uncommon. Unfortunately, the prognosis is reserved, because the treatment in many cases is only symptomatic and when it fails, euthanasia of the patient is the only viable option. The detection of carriers is of pivotal importance in order to prevent the spread of these disorders in the equine population. This manuscript reviews the current state of knowledge of genetic diseases that affect red blood cells, leukocytes, platelets and clotting factors in the horse. The genetic diseases that affect equine red blood cells are defects in the activity of enzymes and cofactors involved in erythrocytes metabolism, such as glucose 6 phosphate dehydrogenase, flavin adenine dinucleotide, glutathione reductase and glutathione. Therefore, their deficiency triggers methemoglobinemia and hemolytic anemia. Genetic disorders affecting granulocytes are rare in horses, but a Pelget-Hüet anomaly has been reported. Primary immunodeficiencies described in horses and arising from defects in the immune system are severe combined immunodeficiency, X-linked agammaglobulinemia and Fell pony immunodeficiency syndrome. Because of the immunodeficiency, foals usually develop fatal infections during the first weeks or months of life, caused for opportunistic organisms. Prognosis of these animals is poor. The most common genetic defect of platelet is Glanzmann thrombasthenia, which results in prolonged bleeding time and hematoma formation. Spontaneous bleeding or impaired hemostasis after trauma or surgery are clinical findings in types 1 and 2 von Willebrand disease. Hemophilia A, resulting from a decreased activity of coagulation factor VIII has also been described in male horses of different breeds, being the most common genetic disorder affecting coagulation factor in the horse. Prekallikrein deficit, although described in some horses, is a rare genetic coagulation factor deficiency.
42
W, Pustika Amalia, Djajadiman Gatot, Teny Tjitrasari, Iswari Setianingsih, and Nanis Sacharis Marzuki. "Clinical features of patients with hemolytic anemia due to red blood cells membrane defect." Paediatrica Indonesiana 46, no. 1 (October 18, 2016): 41. http://dx.doi.org/10.14238/pi46.1.2006.41-5.
Full textAbstract:
Background Hemolytic anemia may result from corpuscular orextracorpuscular abnormalities. One of the types of corpuscularabnormalities is membrane defect. The diagnosis is sometimesdifficult and it may need special hematologic investigations. Thereare no data yet on the clinical features of red blood cell membranedefect in Cipto Mangunkusumo Hospital.Objective To evaluate the clinical features and laboratory find-ings of patients with hemolytic anemia due to red blood cells mem-brane defect in Cipto Mangunkusumo Hospital.Methods This was a descriptive study on patients with red bloodcells membrane defect who came to the Thalassemia Center atCipto Mangunkusumo Hospital during 2002-2004.Results In 2002-2004, there were 241 new cases of hemolyticanemia consisted of 116 patients with beta-thalassemia, 109 withHbE-beta thalassemia, 3 with alpha-thalassemia, and 13 with redblood cells membrane defect. The red cells membrane defect pa-tients consisted of 4 males and 9 females, ranging in age from 1months to 14 years. All subjects came to the hospital due to pale-ness as a chief compaint. Hepato-splenomegaly was found in 5 of13 cases. Laboratory findings revealed hemoglobin level 6.4-13.1g/dl (mean 9.4+2.1 g/dl), MCV 58.4-94.5 fl (mean 81.2+10.2 fl),MCHC 31.7-35.8 g/dl (mean 33.9+1.1g/dl), RDW 15.8-28.4%(mean 20.1+3.6%) and normal hemoglobin electrophoresis. Pe-ripheral blood smear showed anisocytosis, poikilocytosis,spherocytes, ovalocytes, stomatocytes, target cells, and fragmentedcells. The most common diagnosis in this group was SoutheastAsian Ovalocytosis (5/13).Conclusions In facing hemolytic anemia with normal Hb electro-phoresis or normal RBC enzyme level, the possibility of red cellsmembrane defect should be taken into consideration as a causeof this disorder. The clinical features and laboratory findings of redblood cells membrane defect patients are highly variable. Occa-sionally, hematologic investigations are necessary
43
Brodsky, Robert A., Galina L. Mukhina, Kim L. Nelson, Tracy S. Lawrence, Richard J. Jones, and J. Thomas Buckley. "Resistance of Paroxysmal Nocturnal Hemoglobinuria Cells to the Glycosylphosphatidylinositol-Binding Toxin Aerolysin." Blood 93, no. 5 (March 1, 1999): 1749–56. http://dx.doi.org/10.1182/blood.v93.5.1749.
Full textAbstract:
Abstract Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal stem cell disorder caused by a somatic mutation of the PIGA gene. The product of this gene is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; therefore, the phenotypic hallmark of PNH cells is an absence or marked deficiency of all GPI-anchored proteins. Aerolysin is a toxin secreted by the bacterial pathogen Aeromonas hydrophila and is capable of killing target cells by forming channels in their membranes after binding to GPI-anchored receptors. We found that PNH blood cells (erythrocytes, lymphocytes, and granulocytes), but not blood cells from normals or other hematologic disorders, are resistant to the cytotoxic effects of aerolysin. The percentage of lysis of PNH cells after aerolysin exposure paralleled the percentage of CD59+ cells in the samples measured by flow cytometry. The kinetics of red blood cell lysis correlated with the type of PNH erythrocytes. PNH type III cells were completely resistant to aerolysin, whereas PNH type II cells displayed intermediate sensitivity. Importantly, the use of aerolysin allowed us to detect PNH populations that could not be detected by standard flow cytometry. Resistance of PNH cells to aerolysin allows for a simple, inexpensive assay for PNH that is sensitive and specific. Aerolysin should also be useful in studying PNH biology.
44
Brodsky, Robert A., Galina L. Mukhina, Kim L. Nelson, Tracy S. Lawrence, Richard J. Jones, and J. Thomas Buckley. "Resistance of Paroxysmal Nocturnal Hemoglobinuria Cells to the Glycosylphosphatidylinositol-Binding Toxin Aerolysin." Blood 93, no. 5 (March 1, 1999): 1749–56. http://dx.doi.org/10.1182/blood.v93.5.1749.405k09_1749_1756.
Full textAbstract:
Paroxysmal nocturnal hemoglobinuria (PNH) is a clonal stem cell disorder caused by a somatic mutation of the PIGA gene. The product of this gene is required for the biosynthesis of glycosylphosphatidylinositol (GPI) anchors; therefore, the phenotypic hallmark of PNH cells is an absence or marked deficiency of all GPI-anchored proteins. Aerolysin is a toxin secreted by the bacterial pathogen Aeromonas hydrophila and is capable of killing target cells by forming channels in their membranes after binding to GPI-anchored receptors. We found that PNH blood cells (erythrocytes, lymphocytes, and granulocytes), but not blood cells from normals or other hematologic disorders, are resistant to the cytotoxic effects of aerolysin. The percentage of lysis of PNH cells after aerolysin exposure paralleled the percentage of CD59+ cells in the samples measured by flow cytometry. The kinetics of red blood cell lysis correlated with the type of PNH erythrocytes. PNH type III cells were completely resistant to aerolysin, whereas PNH type II cells displayed intermediate sensitivity. Importantly, the use of aerolysin allowed us to detect PNH populations that could not be detected by standard flow cytometry. Resistance of PNH cells to aerolysin allows for a simple, inexpensive assay for PNH that is sensitive and specific. Aerolysin should also be useful in studying PNH biology.
45
Ortiz-Miranda, Sonia, Rui Ji, Agata Jurczyk, Ken-Edwin Aryee, Shunyan Mo, Terry Fletcher, Scott A. Shaffer, et al. "A novel transgenic mouse model of lysosomal storage disorder." American Journal of Physiology-Gastrointestinal and Liver Physiology 311, no. 5 (November 1, 2016): G903—G919. http://dx.doi.org/10.1152/ajpgi.00313.2015.
Full textAbstract:
Knockout technology has proven useful for delineating functional roles of specific genes. Here we describe and provide an explanation for striking pathology that occurs in a subset of genetically engineered mice expressing a rat CaVβ2a transgene under control of the cardiac α-myosin heavy chain promoter. Lesions were limited to mice homozygous for transgene and independent of native Cacnb2 genomic copy number. Gross findings included an atrophied pancreas; decreased adipose tissue; thickened, orange intestines; and enlarged liver, spleen, and abdominal lymph nodes. Immune cell infiltration and cell engulfment by macrophages were associated with loss of pancreatic acinar cells. Foamy macrophages diffusely infiltrated the small intestine's lamina propria, while similar macrophage aggregates packed liver and splenic red pulp sinusoids. Periodic acid-Schiff-positive, diastase-resistant, iron-negative, Oil Red O-positive, and autofluorescent cytoplasm was indicative of a lipid storage disorder. Electron microscopic analysis revealed liver sinusoids distended by clusters of macrophages containing intracellular myelin “swirls” and hepatocytes with enlarged lysosomes. Additionally, build up of cholesterol, cholesterol esters, and triglycerides, along with changes in liver metabolic enzyme levels, were consistent with a lipid processing defect. Because of this complex pathology, we examined the transgene insertion site. Multiple transgene copies inserted into chromosome 19; at this same site, an approximate 180,000 base pair deletion occurred, ablating cholesterol 25-hydroxylase and partially deleting lysosomal acid lipase and CD95. Loss of gene function can account for the altered lipid processing, along with hypertrophy of the immune system, which define this phenotype, and serendipitously provides a novel mouse model of lysosomal storage disorder.
46
Schmieg, John J., Jeannie M. Muir, Nadine S. Aguilera, and Aaron Auerbach. "CD5-Negative, CD10-Negative Low-Grade B-Cell Lymphoproliferative Disorders of the Spleen." Current Oncology 28, no. 6 (December 4, 2021): 5124–47. http://dx.doi.org/10.3390/curroncol28060430.
Full textAbstract:
CD5-negative, CD10-negative low-grade B-cell lymphoproliferative disorders (CD5-CD10-LPD) of the spleen comprise a fascinating group of indolent, neoplastic, mature B-cell proliferations that are essential to accurately identify but can be difficult to diagnose. They comprise the majority of B-cell LPDs primary to the spleen, commonly presenting with splenomegaly and co-involvement of peripheral blood and bone marrow, but with little to no involvement of lymph nodes. Splenic marginal zone lymphoma is one of the prototypical, best studied, and most frequently encountered CD5-CD10-LPD of the spleen and typically involves white pulp. In contrast, hairy cell leukemia, another well-studied CD5-CD10-LPD of the spleen, involves red pulp, as do the two less common entities comprising so-called splenic B-cell lymphoma/leukemia unclassifiable: splenic diffuse red pulp small B-cell lymphoma and hairy cell leukemia variant. Although not always encountered in the spleen, lymphoplasmacytic lymphoma, a B-cell lymphoproliferative disorder consisting of a dual population of both clonal B-cells and plasma cells and the frequent presence of the MYD88 L265P mutation, is another CD5-CD10-LPD that can be seen in the spleen. Distinction of these different entities is possible through careful evaluation of morphologic, immunophenotypic, cytogenetic, and molecular features, as well as peripheral blood and bone marrow specimens. A firm understanding of this group of low-grade B-cell lymphoproliferative disorders is necessary for accurate diagnosis leading to optimal patient management.
47
Franco, Melanie, Emmanuel Collec, Philippe Connes, Emile van den Akker, Thierry Billette de Villemeur, Nadia Belmatoug, Marieke von Lindern, et al. "Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease." Blood 121, no. 3 (January 17, 2013): 546–55. http://dx.doi.org/10.1182/blood-2012-07-442467.
Full textAbstract:
AbstractGaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase deficiency. It is notably characterized by splenomegaly, complex skeletal involvement, ischemic events of the spleen and bones, and the accumulation of Gaucher cells in several organs. We hypothesized that red blood cells (RBCs) might be involved in some features of GD and studied the adhesive and hemorheologic properties of RBCs from GD patients. Hemorheologic analyses revealed enhanced blood viscosity, increased aggregation, and disaggregation threshold of GD RBCs compared with control (CTR) RBCs. GD RBCs also exhibited frequent morphologic abnormalities and lower deformability. Under physiologic flow conditions, GD RBCs adhered more strongly to human microvascular endothelial cells and to laminin than CTR. We showed that Lu/BCAM, the unique erythroid laminin receptor, is overexpressed and highly phosphorylated in GD RBCs, and may play a major role in the adhesion process. The demonstration that GD RBCs have abnormal rheologic and adhesion properties suggests that they may trigger ischemic events in GD, and possibly phagocytosis by macrophages, leading to the appearance of pathogenic Gaucher cells.
48
Rahman, Wan Suriana Wan Ab, Wan Zaidah Abdullah, Rapiaah Mustaffa, Suhair Abbas Ahmed, Mohd Nazri Hassan, and Azlan Husin. "Thrombotic Thrombocytopenic Purpura: Three Peripartum Cases and Diagnostic Challenges." Clinical Medicine Insights: Case Reports 6 (January 2013): CCRep.S12122. http://dx.doi.org/10.4137/ccrep.s12122.
Full textAbstract:
Thrombotic thrombocytopenic purpura (TTP) is a medical emergency characterized by occlusive microangiopathy due to intravascular platelet aggregation. This event results in damage to the red blood cells (RBCs) known as microangiopathic hemolytic anemia (MAHA). Schistocytes are circulating fragments of damaged RBCs that have different morphological features including keratocytes, helmet cells, and spherocytes. It is critical to report even a small number of these abnormal RBCs in the peripheral blood and to be alert for the possible diagnosis of TTP, especially in unexplained anemia and thrombocytopenia. The application of pentad criteria in the diagnosis has been reviewed, and the challenges still remained on the hematologic evidence of this disorder. In the 3 cases discussed here, the red cell morphological diagnosis gave an impact on TTP diagnosis, but overdiagnosis might be encountered in obstetrical patients due to nonspecific diagnostic criteria.
49
Jungwirth, Nicole, Johannes Junginger, Christoph Andrijczuk, Wolfgang Baumgärtner, and Peter Wohlsein. "Plexiform Vasculopathy in Feline Cervical Lymph Nodes." Veterinary Pathology 55, no. 3 (January 17, 2018): 453–56. http://dx.doi.org/10.1177/0300985817747949.
Full textAbstract:
Plexiform vasculopathy refers to an endothelial proliferative disorder affecting cervical or inguinal lymph nodes of cats. The cause of this disorder and the origin of the proliferating endothelial cells are still unknown. In 4 cats with a history of a slowly growing, well-demarcated, nonpainful mass adjacent to the thyroid gland, an enlarged dark brown to red lymph node was removed. Histologically, the lymph nodes showed severe loss of lymphoid tissue with accumulations of erythrocytes. In addition, networks of capillary structures with well-differentiated endothelial cells on a collagen-rich stroma were observed, consistent with benign plexiform vasculopathy. Immunohistochemistry revealed the expression of the vascular endothelial markers CD31 and factor VIII–related antigen. In addition, immunolabeling with a Prox-1 antibody indicated a lymphendothelial origin. With respect to our findings, a lymphendothelial origin has to be considered in cases of intranodal vascular neoplasms.
50
Kaudlay, Praveen, Haiying Hua, Guansheng He, Darren J. Newton, Abraham M. Varghese, Talha Munir, Anita Hill, Richard J. Kelly, Stephen John Richards, and Peter Hillmen. "“Red Cell Complement Loading In PNH Patients On Eculizumab Is Associated With a C3 Polymorphism Which Influences C3 Function, Predicts For Increased Extravascular Hemolysis and Provides a Rationale For C3 Inhibition.”." Blood 122, no. 21 (November 15, 2013): 2466. http://dx.doi.org/10.1182/blood.v122.21.2466.2466.
Full textAbstract:
Abstract Introduction Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired bone marrow disorder characterised by intravascular hemolysis and hemoglobinuria, potentially life-threatening thrombosis and an association with aplastic anemia. Most of the clinical features and complications of PNH are due to the unopposed activity of complement due to the absence of CD59 and CD55, two key regulators of complement. Eculizumab prevents the cleavage of C5 complement thereby preventing terminal complement activity and protecting PNH cells from lysis. The inhibition of C5 preserves the early part of complement pathway and leads to the build up of C3 on the PNH red cells, perhaps in part due to their lack of CD55. The majority of PNH patients receiving eculizumab have evidence of extravascular haemolysis that can be clinically significant, including with anemia, hyperbilirubinemia and in some a continued requirement for transfusions. This extravascular hemolysis in thought to be due to the C3 loading of PNH red cells. Methods We report the C3-loading of the PNH red cells from 119 patients treated with eculizumab and correlate this with hemoglobin, LDH, bilirubin, reticulocytes and transfusions. We have studied genetic polymorphisms that affect both C3 and FCγR. We have genotyped 46 eculizumab patients for a functional mutation in the C3 gene (rs2230199). The two alleles of this gene can be distinguished by the presence or absence of a HindIII restriction site that distinguishes the electophoretically slow (arg80) from the electrophoretically fast (gly80) allotype. The fast (C3F) allotype allele of this snp is associated with a range of disorders including age-related macular degeneration, IgA nephropathy, systemic vasculitis and partial lipodystrophy. APL-1 is a small cyclic peptide that binds to and inhibits the activation of complement C3. APL-2 is a large conjugate of APL-1 with enhanced bioactivity and a long systemic half-life. APL-1 and APL-2 molecules as well as other complement inhibitors were studied for lysis of red cells and C3 loading in vitro in a modified Ham test in which flow cytometry was used to identify non-lysed cells. Results Out of the 119 Eculizumab treated patients, 55 (46.2%) required at least one transfusion on treatment. 110 patients had C3 detectable by flow cytometry on their PNH red cells (mean of 19.8%; range: <0.1 to 64.6%). C3-loading was not seen on the normal red cells from the same patients on treatment nor on the PNH red cells in patients not receiving eculizumab. The mean LDH (735IU/l) and reticulocyte count (193 x 109/l) were not statistically significantly different for the transfused group compared to the non-transfused group (518 and 163 respectively). Mean PNH C3 and RBC C3 did not differ stastistically between the transfused and non-transfused groups (26.20 Vs 24.78 PNH C3;15.96 vs 15.09 RBC C3 respectively). We studied one functional polymorphism in the Fcγ receptor but this showed no correlation with haemolytic parameters. Conversely, for the C3 polymorphism eculizumab-treated patients homozygous for the slow (C3S) allele had a significantly higher degree of C3 loading on PNH red blood cells with C3S/C3S having a mean of 33.7% C3 loaded PNH red cells (n=26), C3S/C3F 19.0% (n=19) and C3F/C3F 12.8% (n=3)(all P<0.01). Homozygote C3S also had increased reticulocytes (P<0.01) and bilirubin (P<0.01). The C3S allele has previously been shown to be more efficient in a haemolysis assay using sheep erythrocytes. This polymorphism appears to explain much of the variation in C3 loading between different patients with PNH. In vitro experiments show that inhibitors of C5, such as eculizumab, protect the PNH red cells from lysis but lead to a very rapid deposition of C3 on the PNH red cells. However both APL1 and APL2 demonstrated similar protection of PNH red cell lysis with virtually no C3 loading on PNH red cells. Conclusion A significant proportion of patients on eculizumab experience extravascular haemolysis with the majority of patients developing C3 loading. We show for the first time that a functional polymorphism in the C3 gene is associated parameters of hemolysis. The S(low) allele alters the function of C3 protein and appears to be associated with extravascular haemolysis in patients with PNH. The C3 inhibitors, APL-1 and APL-2, protect PNH red cells and prevent C3 loading in vitro and if safe to be given chronically would be expected to reduce extravascular hemolysis significantly. Disclosures: Hill: Alexion Pharmaceuticals: Honoraria, Membership on an entity’s Board of Directors or advisory committees, Speakers Bureau. Kelly:Alexion: Honoraria. Richards:Alexion Pharmaceuticals: Honoraria, Membership on an entity’s Board of Directors or advisory committees. Hillmen:Alexion: Honoraria, Membership on an entity’s Board of Directors or advisory committees.