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Journal articles on the topic 'Inherited anaemias'

Author: Grafiati
Published: 4 June 2021
Last updated: 16 February 2022

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1

Roberts-Harewood, Marilyn. "Inherited haemolytic anaemias." Medicine 37, no. 3 (March 2009): 143–48. http://dx.doi.org/10.1016/j.mpmed.2009.01.002.

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2

Weatherall, DJ, and AB Provan. "Red cells I: inherited anaemias." Lancet 355, no. 9210 (April 2000): 1169–75. http://dx.doi.org/10.1016/s0140-6736(00)02073-0.

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3

Kesse-Adu, Rachel, and Jo Howard. "Inherited anaemias: sickle cell and thalassaemia." Medicine 41, no. 4 (April 2013): 219–24. http://dx.doi.org/10.1016/j.mpmed.2013.01.012.

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4

Kesse-Adu, Rachel, and Jo Howard. "Inherited anaemias: sickle cell and thalassaemia." Medicine 45, no. 4 (April 2017): 214–20. http://dx.doi.org/10.1016/j.mpmed.2017.01.005.

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5

Kesse-Adu, Rachel, and Jo Howard. "Inherited anaemias: sickle cell and thalassaemia." Medicine 49, no. 4 (April 2021): 210–16. http://dx.doi.org/10.1016/j.mpmed.2021.01.006.

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6

Dokal, Inderjeet, and Tom Vulliamy. "Inherited aplastic anaemias/bone marrow failure syndromes." Blood Reviews 22, no. 3 (May 2008): 141–53. http://dx.doi.org/10.1016/j.blre.2007.11.003.

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7

Mayhew, Rachel, Frances Smith, Laura Steedman, Nicholas Parkin, Eva Moldes Beiro, Peter Rushton, Alison Bybee, et al. "A Review of 1000 Molecular Investigations of Rare Inherited Anaemia and Related Conditions with the Red Cell Gene Panel." Blood 132, Supplement 1 (November 29, 2018): 3609. http://dx.doi.org/10.1182/blood-2018-99-118799.

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Abstract The genetic diagnosis of inherited anaemias is an important aspect of the diagnostic pathway for patients with haematological disorders, allowing discrimination between conditions of overlapping phenotypes therefore enabling more effective clinical treatment. Next Generation sequencing platforms are now in widespread use in diagnostic settings and are facilitating more rapid, accurate and cost-effective molecular diagnosis. The Red Cell Gene Panel developed by the Viapath Molecular Pathology laboratory based at King's College Hospital, London has harnessed this technology with the aim of identifying genetic diagnoses of rare inherited causes of anaemia. Although originally setup to diagnose inherited red cell disorders, clinical demand has led to the inclusion of inherited bone marrow failure syndromes and other related conditions such that the panel now consists of 194 genes, divided into 16 subpanels (see table 1). Here we present the data from the first 1000 diagnostic cases reported under the following referral groups: 462 cases of unexplained anaemia (including haemolytic anaemia, sideroblastic anaemia, congenital dyserythropoietic anaemia, Diamond-Blackfan Anaemia), 232 cases of inherited bone marrow failure syndromes (including thrombocytopenia and neutropenia), 163 cases of congenital erythrocytosis and 143 other cases (including but not limited to iron regulation, haemophagocytic lymphohistiocytosis (HLH) and Criggler-Najjar ). Of these 1000 cases, we have achieved an overall diagnostic yield of approximately 25%. A diagnosed case is defined here as one in which a clear pathogenic or likely pathogenic variant that explains the phenotype has been detected. The unexplained anaemia cases have achieved the highest percentage of cases diagnosed with 47% diagnostic yield and data will be presented outlining the gene-by-gene breakdown of diagnoses made. Our bespoke bioinformatics pipeline has also allowed the detection of novel disease-causing structural variants in 20 cases, contributing 2% of our diagnostic yield. These are detected using three different methods; read-depth analysis, split-read mapping and discordant insert-size analysis. All reported structural variants have been confirmed with a second method, either breakpoint mapping or dosage-sensitive PCR. A significant proportion of cases (28%) have been reported with variants of uncertain clinical significance, highlighting the need for family studies and functional characterisation to be able to accurately ascertain the significance of these variants. Future developments of the service include functional characterisation of membrane disorders using next generation ektacytometry and preliminary data from this work will be presented here. Disclosures Kulasekararaj: Alexion Pharmaceuticals, Inc.: Consultancy, Honoraria, Other: Travel Support . Pagliuca:Gentium: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau; Jazz Pharmaceuticals: Honoraria, Membership on an entity's Board of Directors or advisory committees, Speakers Bureau.
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8

Rawa, Katarzyna, Anna Adamowicz-Salach, Michał Matysiak, Anna Trzemecka, and Beata Burzynska. "Coexistence of Gilbert syndrome with hereditary haemolytic anaemias." Journal of Clinical Pathology 65, no. 7 (May 3, 2012): 663–65. http://dx.doi.org/10.1136/jclinpath-2011-200580.

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BackgroundGilbert syndrome is an inherited disease characterised by mild unconjugated hyperbilirubinaemia caused by mutations in UGT1A1 gene which lead to decreased activity of UDP-glucuronosyltransferase 1A1. The most frequent genetic defect is a homozygous TA dinucleotide insertion in the regulatory TATA box in the UGT1A1 gene promoter.Methods and results182 Polish healthy individuals and 256 patients with different types of hereditary haemolytic anaemias were examined for the A(TA)nTAA motif. PCR was performed using sense primer labelled by 6-Fam and capillary electrophoresis was carried out in an ABI 3730 DNA analyser. The frequency of the (TA)7/(TA)7 genotype in the control group was estimated at 18.13%, (TA)6/(TA)7 at 45.05% and (TA)6/(TA)6 at 36.26%. There was a statistically significant difference in the (TA)6/(TA)6 genotype distribution between healthy individuals and patients with glucose-6-phosphate dehydrogenase deficiency (p=0.041). Additionally, uncommon genotypes, (TA)5/(TA)6, (TA)5/(TA)7 and (TA)7/(TA)8 of the promoter polymorphism, were discovered.ConclusionGenotyping of the UGT1A1 gene showed distinct distribution of the common A(TA)nTAA polymorphism relative to other European populations. Because of a greater risk of hyperbilirubinaemia due to hereditary haemolytic anaemia, the diagnosis of Gilbert syndrome in this group of patients is very important.
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9

Korubo, Kaladada I., and Boma A. West. "Congenital Dyserythropoietic Anaemia: Case Report of a Rare Blood Disorder in a Nigerian Child." Blood 124, no. 21 (December 6, 2014): 4879. http://dx.doi.org/10.1182/blood.v124.21.4879.4879.

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Abstract Introduction The congenital dyserythropoietic anaemias (CDA) are a rare group of inherited haemolytic anaemias characterized by ineffective erythropoiesis and dyserythropoiesis. Due to the rarity of this disorder (and in Africa where haemoglobinopathies are the commonest cause of congenital haemolytic anaemias), the diagnosis can be missed. We report a six year old girl with recurrent anaemia, jaundice, hepatosplenomegaly and history of multiple transfusions who was diagnosed with CDA. Case Report A six year old girl presented to the paediatric clinic with a two year history of passing coke-coloured urine, recurrent anaemia requiring regular three-monthly transfusions and persistent jaundice. She was not a known sickle cell anaemia or thalassaemia patient. History of prenatal period, birth and delivery were normal (birth weight 3.5kg/ 7.7lbs). There was no history of neonatal jaundice or family history of similar illness. At presentation, she was acutely ill-looking, conscious but weak. She was afebrile, severely pale, icteric, tachypneic and in respiratory distress (respiratory rate of 52 cycles/minute). She was small for age; weight 15kg / 33.1lbs (below the 3rd percentile), height 104cm (below the 3rd percentile) with frontal bossing and gnathopathy. The liver was 6cm below the right costal margin and tender, with splenomegaly- 5cm below the costal margin. There was no lymphadenopathy. Her chest was clear, heart rate 140 beats/minute, and blood pressure of 100/50mmHg with presence of a haemic murmur. A preliminary clinical diagnosis of recurrent severe haemolytic anaemia in heart failure secondary to haemoglobinopathy was made. Full blood count showed severe anaemia with haemoglobin (Hb) concentration of 5.1g/dL, normal red cell indices, white cell count- 13.6 X 109/L, platelets- 191 X 109/L and reticulocyte count- 1.3%. The Hb genotype was AA, direct and indirect antiglobulin test were negative. Liver functions tests showed normal enzyme and protein values; but high total bilirubin (104mmol/L) and unconjugated bilirubin- 17.4umol/L. Serum uric acid was normal. HIV, hepatitis B and C were negative. Urinalysis was positive for blood, urobilinogen, bilirubin, with a pH of 8.0. Urine microscopy showed granular, epithelial and red blood cell casts. Glucose-6-phosphate dehydrogenase assay- 12.5 μ/Hb. She was admitted, placed on oxygen, transfused and discharged on the third day in stable condition. However she was brought back to the hospital about 3 months later for similar symptoms. Urgent Hb concentration was 6.0g/dL. Peripheral blood film revealed anisopoikilocytosis, some macrocytes, tear drop cells, polychromasia, basophilic stippling, fragmented red cells and presence of nucleated red cells (12/100 white cells)- a few of which were multinucleated (Fig 1). HPLC showed low HbA (74.1%), severely increased HbF (23.8%) and HbA2 (2.1%). Bone marrow (BM) aspiration showed a hypercellular marrow, erythroid hyperplasia (myeloid/erythroid ratio 1:2), dyserythropoiesis with erythroid multinuclearity in >10% of late erythroid precursors and significant karyorrhexis. Myelopoiesis and megakaryopoiesis were essentially normal (Fig 2). Serum ferritin was elevated (2,658ng/ml). In the absence of availability of electron microscopy or molecular studies, a diagnosis of CDA type II was made based on clinical, laboratory and characteristic bone marrow findings. She was transfused, placed on iron chelation therapy, her parents counseled on treatment options and she is being followed up. Discussion The CDAs are classically grouped into 3 types based on bone marrow morphology. Type I has erythroblasts joined by an internuclear bridge. Type II erythroblasts have multinuclearity of late erythroblasts while type III has gigantoblasts (erythroblasts with ≥8 nuclei). Inheritance is autosomal recessive and diagnosis is usually in childhood or early adult life. Common clinical findings are anaemia, jaundice and splenomegaly; however these are seen in other more common inherited haemolytic anaemias. BM examination is the gold standard for diagnosis. Patients with CDA usually have high serum ferritin that may require iron chelation therapy. CDA although rare must be considered in a child who has recurrent anaemia in whom other causes have been excluded. BM examination remains a key diagnostic tool in identification of the CDAs. Fig 1: Blood Film Fig 1:. Blood Film Fig 2: Bone Marrow Fig 2:. Bone Marrow Disclosures No relevant conflicts of interest to declare.
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10

Roy, Noémi B. A., Paul Telfer, Perla Eleftheriou, Josu de la Fuente, Emma Drasar, Farrukh Shah, David Roberts, et al. "Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID‐19 pandemic." British Journal of Haematology 189, no. 4 (May 2020): 635–39. http://dx.doi.org/10.1111/bjh.16687.

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11

Roy, Noemi, Melanie Proven, Irene Roberts, Hannah Tamary, Dorine W. Swinkels, Aguilar-Martinez Patricia, Paola Bianchi, et al. "Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias." Blood 132, Supplement 1 (November 29, 2018): 4936. http://dx.doi.org/10.1182/blood-2018-99-111609.

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Abstract The diagnosis of patients with inherited anemias is increasingly made in conjunction with high-throughput 'next-generation' sequencing (NGS) analysis, largely using targeted resequencing panels validated for clinical use in diagnostic labs. While there is a joint UK NEQAS and European Molecular Quality Network pilot scheme for Molecular Genetics to assess NGS quality control, this is not disease-specific. Patients with inherited anaemias can have multiple mutations with complex genotype phenotype interactions therefore a scheme assessing interpretation of these results could be of value. Likewise, guidelines for variant reporting (eg ACMG- American College of Medical Genetics and Genomics) provide excellent advice on how to interpret the likely pathogenicity of genetic variants, but no disease-specific guidance exists to assist in the clinical interpretation of NGS findings for individuals with rare inherited anemias. The European Hematology Association Scientific Working Group on Red Cells and Iron carried out a survey among its members to investigate variability in current practice and determine the need for, and feasibility of, a formal external quality assessment (EQA) scheme. Surveys and two clinical vignettes with sample variant call files (VCFs) were distributed among 14 participating labs from 9 countries; 13/14 labs used a targeted panel and 1/14 lab (8%) used a 366-gene virtual panel derived from whole exome sequencing data. Accreditation: 12/14 labs had ISO (International Organisation for Standardisation) accreditation for their NGS; 2/12,used local accreditation schemes. The number of genes per targeted panel ranged from 18 to 215 genes (median 64), covering: congenital dyserythropoietic anemias, Diamond-Blackfan anemia, sideroblastic anemia, red cell membrane and enzyme disorders. Some panels included other related bone marrow failure or iron metabolism disorders. 7/13 labs with targeted panels sequenced only exons, with variable padding into introns, while 6/13 routinely sequenced 3' and 5' untranslated regions. Capture methods were variable between labs and 11/14 labs used Illumina platforms for sequencing and 3/14 Ion Torrent. Sanger sequencing was used for confirmation of NGS variants in 12/14 labs, but used for gap-filling of uncovered regions in 10/14 labs. Reporting of variants followed ACMG guidelines in 10/14 labs, ACGS (Association for Clinical Genomics Science) guidelines in 2/14 and no published guidelines in 2/14. Reporting of Tier 3 (variants of uncertain significance): 8/14 labs reported strict adherence to ACMG guidelines, including only Class 4 and Class 5 variants in clinical reports, while 6/14 labs admitted looser adherence and reporting of Class 3 variants depending on circumstances. The number of samples analysed per year was highly variable between labs (10-600, median 60). Two mini-EQA VCFs were sent with clinical vignettes, for which 100% of labs correctly identified a case of autosomal recessive sideroblastic anaemia due to compound heterozygous mutations in SLC25A38, and 100% correctly identified a case negative by NGS. Class 3 variants were not reported at all in 50% of clinical reports, reported in the main body of the report in 20% and in a separate table in 30% of labs. In conclusion, we have identified common approaches to NGS sequencing in 14 diagnostic laboratories but highlighted variability in accreditation, use of Sanger sequencing and adherence to ACMG guidelines. The feasibility of carrying out an EQA scheme has been established and work will continue with UK NEQAS to formally create such a scheme, with the aim of ensuring improved patient care through the use of objective quality assessments. Disclosures Colombatti: ADDMEDICA: Consultancy; BlueBirdBio: Consultancy; Global Blood Therapeutics: Consultancy; NOVARTIS: Consultancy. Viprakasit:Protagonist Therapeutics: Consultancy, Research Funding; Agios: Consultancy, Research Funding; F. Hoffmann-La Roche Ltd: Consultancy, Research Funding; Novartis: Consultancy, Research Funding.
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12

Woo, Patrick T. K. "Immunological and Therapeutic Strategies against Salmonid Cryptobiosis." Journal of Biomedicine and Biotechnology 2010 (2010): 1–9. http://dx.doi.org/10.1155/2010/341783.

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Salmonid cryptobiosis is caused by the haemoflagellate,Cryptobia salmositica. Clinical signs of the disease in salmon (Oncorhynchusspp.) include exophthalmia, general oedema, abdominal distension with ascites, anaemia, and anorexia. The disease-causing factor is a metalloprotease and the monoclonal antibody (mAb-001) against it is therapeutic. MAb-001 does not fix complement but agglutinates the parasite. Some brook charr,Salvelinus fontinaliscannot be infected (Cryptobia-resistant); this resistance is controlled by a dominant Mendelian locus and is inherited. InCryptobia-resistant charr the pathogen is lysed via the Alternative Pathway of Complement Activation. However, some charr can be infected and they have high parasitaemias with no disease (Cryptobia-tolerant). In infectedCryptobia-tolerant charr the metalloprotease is neutralized by a natural antiprotease,α2 macroglobulin. Two vaccines have been developed. A single dose of the attenuated vaccine protects 100% of salmonids (juveniles and adults) for at least 24 months. Complement fixing antibody production and cell-mediated response in vaccinated fish rise significantly after challenge. Fish injected with the DNA vaccine initially have slight anaemias but they recover and have agglutinating antibodies. On challenge, DNA-vaccinated fish have lower parasitaemias, delayed peak parasitaemias and faster recoveries. Isometamidium chloride is therapeutic against the pathogen and its effectiveness is increased after conjugation to antibodies.
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13

Welch, Jenny, Nick Meade, Dominic Messenger, Amy Hunter, Anupama Rao, Subarna Chakravorty, Rachel Wearmouth, et al. ""in the Patients' Hands"- a Structured Survey of Patient Voices to Prioritise Research Questions in Rare Inherited Anaemias: The James Lind Alliance Priority Setting Partnership." Blood 132, Supplement 1 (November 29, 2018): 5876. http://dx.doi.org/10.1182/blood-2018-99-115404.

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Abstract Patients with rare inherited anaemias (RIAs) may take years to receive a precise diagnosis. Lack of equitable access to the few centres of specialist expertise means not all patients will receive the same standard of care. Few treatments have been developed, in part from lack of research. The research agenda is traditionally set by scientists, the medical profession, funding bodies and pharmaceutical companies. The voice of patients and carers is rarely considered in deciding which questions will be addressed in studies. Involving patients in setting the research agenda is likely to improve the validity and quality of research, but the practicalities of surveying patient voices objectively are not straightforward. Using a well-established, structured format for collecting patient-driven priorities, we carried out a James Lind Alliance (JLA) Priority Setting Partnership (PSP) in RIA. This has been used internationally to produce patient-driven research priorities in >60 disorders, eg blood transfusion and donation. The aim of the study was to determine what people with RIAs, their carers and health professionals believe to be the most important areas for future research using a 3-step sequential survey approach. The steering group (SG) comprised adult and paediatric haematologists, nurses, patients, representatives from patient organisations, and a JLA facilitator, reflecting representation from medical and lay stakeholders. The SG chose to focus this piece of work on disorders which are individually rare or very rare to provide the first ever opportunity for a collective voice: Diamond-Blackfan Anaemia, Congenital Dyserythropoietic Anaemia, Congenital Sideroblastic Anaemia, red cell membrane and enzyme disorders, and transfusion-dependent unexplained RIAs. The SG devised the first survey (PSP Survey 1) comprising open questions to address the diagnosis, treatment, and management of these conditions. Survey 1 was distributed UK-wide to adult and paediatric haematologists, patient organisations and support groups and on social media. The British Society of Haematology distributed to all members. Haematologists were invited to send the survey to their patients. 88 people responded to PSP Survey 1, listing questions they would most like answered. Of these, 23% were patients, 27% relatives/friends, 44% health/social care professionals, 6% other. A total of 314 valid questions were submitted, then filtered by grouping similar/overlapping questions, removing those answered in the literature, leaving 48 unanswered questions to be taken forward in PSP Survey 2. 120 respondents ranked each question on a Likert scale, indicating the degree of personal importance. Individual scores were totalled to provide a shortlist of 25 questions for Stage 3, a one-day multidisciplinary workshop with 30 people representing the breadth of stakeholders recruited via patient and clinician groups and through social media. The Stage 3 PSP workshop identified the 'Top 10' questions by crossover multidisciplinary mini-working groups reaching a consensus using shared understanding between patients and professionals: Would a national formal network of clinicians with expertise and /or a national multidisciplinary team meeting improve care for patients with (RIA)? Can the diagnostic pathways be improved to provide faster and more accurate diagnoses in a cost effective manner? Could an understanding of the cellular and molecular processes in red blood cell production lead to new treatments? Could the need for iron chelation be reduced? Could current approaches and monitoring be improved? How do existing drugs for RIA work? Could this understanding lead to new treatments and new ways of delivering treatments? How can the fatigue of severe anaemia be managed (apart from blood transfusions)? Would a register of all RIA patients in the UK (including data and samples) improve care? How is quality of life affected by RIA and its treatment? How could this be improved for patients? What factors indicate that a person with a RIA needs a transfusion, and what is the best regime to maintain safety and quality of life? How can high quality care be sustained throughout a patient's lifetime (e.g. from child to adult and into old age)? Engagement by funding bodies to prioritise funding for projects addressing these patient-selected priorities is now key to ensure the success of this initiative. Disclosures No relevant conflicts of interest to declare.
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14

Roy, Noémi B. A., Edward A. Wilson, Shirley Henderson, Katherine Wray, Christian Babbs, Steven Okoli, Wale Atoyebi, et al. "A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias." British Journal of Haematology 175, no. 2 (July 19, 2016): 318–30. http://dx.doi.org/10.1111/bjh.14221.

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15

Raza, Azra, and Naomi Galili. "Myelodysplastic Syndromes – Unexpected Insights Stimulate the Biological Landscape." European Oncology & Haematology 00, no. 04 (2010): 30. http://dx.doi.org/10.17925/eoh.2010.04.0.30.

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The biology of myelodysplastic syndromes (MDS) is characterised by excessive proliferation followed by intramedullary apoptosis of haematopoietic cells. Clonal expansion would at first seem to be incompatible with excessive apoptosis; however, a dual action of pro-inflammatory cytokines that stimulate the progenitor cells while inducing apoptosis in their maturing progeny could explain this paradox. Until recently, these were the only biological characteristics common to all subtypes of MDS. Novel insights emerging from the studies of micro RNAs (miRNAs), gene expression profiling and single nucleotide polymorphism (SNP) arrays are providing additional molecular and genetic features linking the heterogeneous phenotypes. Expression arrays have indicated that genes involved with ribosomal biogenesis and the translational processes controlled by the ribosomal proteins are deregulated in multiple MDS subtypes. Specifically, RPS14, which lies in the commonly deleted region (CDR) of patients with 5q- syndrome, was shown to be causative for that specific phenotype. Certain congenital anaemias also have abnormalities in ribosomal proteins, thus linking acquired and inherited diseases. In addition to excessive apoptosis and proliferation, deregulated ribosomal biogenesis appears to be another unifying mechanism between the syndromes of myelodysplasia. Finally, DNA microarray studies and SNP arrays are yielding novel data in terms of prediction of response to drugs and identification of patients at high risk of developing MDS. These biological insights, some quite unexpected, are opening the doors to entirely novel areas of research and will hopefully lead to better outcomes for patients through translational research.
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16

Dokal, Inderjeet. "Inherited aplastic anaemia." Hematology Journal 4, no. 1 (2003): 3–9. http://dx.doi.org/10.1038/sj.thj.6200215.

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17

Camaschella, Clara. "Recent advances in the understanding of inherited sideroblastic anaemia." British Journal of Haematology 143, no. 1 (October 2008): 27–38. http://dx.doi.org/10.1111/j.1365-2141.2008.07290.x.

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18

Charles, Ikegwuonu, Manyike Chuka, Ezeanosike Obumneme, Ujunwa Fortune, Onoh Emmanuel, and Ikegwuonu Cordis. "Growth Failure in Children with Sickle Cell Anaemia." Volume 5 - 2020, Issue 8 - August 5, no. 8 (September 10, 2020): 1393–99. http://dx.doi.org/10.38124/ijisrt20aug782.

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Abstract:-  Background Sickle cell disease is a group of inherited sickling disorders consequent upon abnormalities of haemoglobin synthesis. It is one of the common causes of retardation in both physical growth and sexual maturation in children, as a result of chronic anaemia and consequent hypoxia that occur in several organs.  Objectives To determine the anthropometric indices (weight, height and Body Mass Index) of children with sickle cell anaemia (SCA) and compare them with that of children with normal haemoglobin; haemoglobin AA (HbAA).
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19

Antwi-Baffour, Samuel, Ransford Kyeremeh, and Lawrence Annison. "Severity of Anaemia Has Corresponding Effects on Coagulation Parameters of Sickle Cell Disease Patients." Diseases 7, no. 4 (December 17, 2019): 59. http://dx.doi.org/10.3390/diseases7040059.

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Sickle cell disease (SCD) is an inherited condition characterized by chronic haemolytic anaemia. SCD is associated with moderate to severe anaemia, hypercoagulable state and inconsistent platelet count and function. However, studies have yielded conflicting results with regards to the effect of anaemia on coagulation in SCD. The purpose of this study was to determine the effect of anaemia severity on selected coagulation parameters of SCD patients. Four millilitres of venous blood samples were taken from the participants (SCD and non-SCD patients) and used for analysis of full blood count and coagulation parameters. Data was analysed using SPSS version-16. From the results, it was seen that individuals with SCD had a prolonged mean PT, APTT and high platelet count compared to the controls. There was also significant difference in the mean PT (p = 0.039), APTT (p = 0.041) and platelet count (p = 0.010) in HbSS participants with severe anaemia. Mean APTT also showed significant difference (p = 0.044) with severe anaemia in HbSC participants. It can be concluded that SCD patients have prolonged PT, APTT and increased platelet count which might predispose them to bleeding episodes and thrombocytosis. Significant difference was also seen between severity of anaemia and mean PT, APTT and platelet count in HbSS individuals.
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20

Volpato, Luiz Evaristo Ricci, Maria Carmen Palma Faria Volpato, Artur Aburad de Carvalhosa, Vinicius Canavarros Palma, and Álvaro Henrique Borges. "Ectodermal Dysplasia Associated with Sickle Cell Disease." Case Reports in Dentistry 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/314391.

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Ectodermal dysplasia and sickle cell anaemia are inherited disorders that affect, respectively, the tissues derived from the embryonic ectoderm and the production of erythrocytes by the bone marrow. The simultaneous occurrence of both disorders is extremely rare. This is a case of both ectodermal dysplasia and sickle cell anaemia reported in a 6-year-old. The patient had been diagnosed with sickle cell anaemia for only six months when he sought treatment presenting with the following: hypotrichosis, dry skin, periocular hyperpigmentation, protruding lips, hypodontia, and morphologically altered teeth. The clinical features combined with his medical history led to the diagnosis of ectodermal dysplasia. Dentists should be prepared to recognise patterns that escape normality to aid in the diagnosis of systemic changes, even in patients with other previous diagnoses.
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21

Petrou, Mary. "The UK control programme for the haemoglobin disorders." Fetal and Maternal Medicine Review 6, no. 4 (November 1994): 191–201. http://dx.doi.org/10.1017/s0965539500001145.

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The haemoglobin disorders are a group of recessively inherited conditions of varying severity. In the homozygous state, alpha zero thalassaemia causes hydrops fetalis, beta thalassaemia usually causes a severe transfusion-dependent anaemia and sickle cell anaemia (HbSS), haemoglobin S/C disease, haemoglobin S/D disease and haemoglobin S/beta thalassaemia cause sickling disorders ranging from quite mild to very severe. Haemoglobin disorders are among the commonest inherited diseases in the UK. Management can be very burdensome, but produces good results in many cases. The disorders can also be prevented by a programme of carrier screening, genetic counselling and prenatal diagnosis in populations at risk. The WHO has defined a “haemoglobinopathy control programme” as an integral strategy combining optimal patient care with prevention based on community education, propective carrier diagnosis, genetic counselling and the offer of prenatal diagnosis. The services required for haemoglobin disorders in the UK have recently been reviewed in a report from the Standing Medical Advisory Committee of the Department of Health. This report focuses on genetic counselling and prenatal diagnosis for haemoglobin disorders.
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22

Leung, Elaine W., Piya Rujkijyanont, Joseph Beyene, Kuiru Wei, Mohamed Abdelhaleem, Melvin H. Freedman, and Yigal Dror. "Shwachman-Diamond syndrome: an inherited model of aplastic anaemia with accelerated angiogenesis." British Journal of Haematology 133, no. 5 (June 2006): 558–61. http://dx.doi.org/10.1111/j.1365-2141.2006.06069.x.

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23

Nichols, Kim E., John D. Crispino, Mortimer Poncz, James G. White, Stuart H. Orkin, John M. Maris, and Mitchell J. Weiss. "Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1." Nature Genetics 24, no. 3 (March 2000): 266–70. http://dx.doi.org/10.1038/73480.

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24

Grimber, Gisele, Colette Galand, Michel Garbarz, Marie-Genevieve Mattei, Catherine Cavard, Alain Zider, Patrice Blanchet, Pierre Boivin, Pascale Briand, and Didier Dhermy. "Inherited haemolytic anaemia created by insertional inactivation of the α-spectrin gene." Transgenic Research 1, no. 6 (November 1992): 268–74. http://dx.doi.org/10.1007/bf02525168.

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25

Tanase, H., K. Kudo, H. Horikoshi, H. Mizushima, T. Okazaki, and E. Ogata. "Inherited primary hypothyroidism with thyrotrophin resistance in Japanese cats." Journal of Endocrinology 129, no. 2 (May 1991): 245—NP. http://dx.doi.org/10.1677/joe.0.1290245.

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ABSTRACT Mutant cats were developed with non-goitrous primary hypothyroidism. They were clinically characterized by severely retarded growth, mild anaemia and high mortality in the young. They responded markedly to thyroid hormone replacement. Thyroid glands in the mutants were normal in position but slightly reduced in size. Laboratory studies revealed low serum concentrations of thyroxine (T4) and tri-iodothyronine (T3), and increased serum concentrations of TSH. Administration of TRH induced no further increase in TSH. Administration of exogenous TSH after suppression of endogenous TSH by T3 did not increase the serum concentration of T4 in the mutants, in sharp contrast with the threefold increase in serum T4 observed in the normal litter-mates. These findings suggest that the underlying pathogenesis of this disorder is unresponsive to TSH. Moreover, we found that the mutants were transmitted in an autosomal recessive manner. Journal of Endocrinology (1991) 129, 245–251
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Bancone, Germana, Mary Ellen Gilder, Nongnud Chowwiwat, Gornpan Gornsawun, Elsi Win, Win Win Cho, Eh Moo, et al. "Prevalences of inherited red blood cell disorders in pregnant women of different ethnicities living along the Thailand-Myanmar border." Wellcome Open Research 2 (November 2, 2017): 72. http://dx.doi.org/10.12688/wellcomeopenres.12338.2.

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Background: Inherited red blood cell disorders are prevalent in populations living in malaria endemic areas; G6PD deficiency is associated with oxidant-induced haemolysis and abnormal haemoglobin variants may cause chronic anaemia. In pregnant women, microcytic anaemia caused by haemoglobinopathies mimics iron deficiency, complicating diagnosis and treatment. Anaemia during pregnancy is associated with morbidity and mortality. The aim of this study was to characterise the prevalence of G6PD deficiency and haemoglobinopathies among the pregnant population living along the Thailand-Myanmar border. Pregnant women attending antenatal clinics in this area belong to several distinct ethnic groups. Methods: Data were available for 13,520 women attending antenatal care between July 2012 and September 2016. Screening for G6PD deficiency was done by fluorescent spot test routinely. G6PD genotyping and quantitative phenotyping by spectrophotometry were analysed in a subsample of women. Haemoglobin variants were diagnosed by HPLC or capillary electrophoresis and molecular methods. The prevalence and distribution of inherited red blood cell disorders was analysed with respect to ethnicity. Results: G6PD deficiency was common, especially in the Sgaw Karen ethnic group, in whom the G6PD Mahidol variant allele frequency was 20.7%. Quantitative G6PD phenotyping showed that 60.5% of heterozygous women had an intermediate enzymatic activity between 30% and 70% of the population median. HbE, beta-thalassaemia trait and Hb Constant Spring were found overall in 15.6% of women. Only 45.2% of women with low percentage of HbA2 were carriers of mutations on the alpha globin genes. Conclusions: Distribution of G6PD and haemoglobin variants varied among the different ethnic groups, but the prevalence was generally high throughout the cohort. These findings encourage the implementation of an extended program of information and genetic counselling to women of reproductive age and will help inform future studies and current clinical management of anaemia in the pregnant population in this region.
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Meyer, Stefan, Heidemarie Neitzel, and Holger Tönnies. "Chromosomal Aberrations Associated with Clonal Evolution and Leukemic Transformation in Fanconi Anemia: Clinical and Biological Implications." Anemia 2012 (2012): 1–6. http://dx.doi.org/10.1155/2012/349837.

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Fanconi anaemia (FA) is an inherited disease with congenital and developmental abnormalities, bone marrow failure, and extreme risk of leukemic transformation. Bone marrow surveillance is an important part of the clinical management of FA and often reveals cytogenetic aberrations. Here, we review bone marrow findings in FA and discuss the clinical and biological implications of chromosomal aberrations associated with leukemic transformation.
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Haque, Quazi Smita, Md Maruf Al Hasan, Muhammad Shahidul Islam Sikder, Sazzad Zayed Chowdhury, Masba Uddin Chowdhury, and Abu Jafar Mohammed Saleh. "A Cas Report of Diamond-Blackfan Anaemia with RPS19 Mutation." Haematology Journal of Bangladesh 5, no. 01 (May 6, 2021): 37–41. http://dx.doi.org/10.37545/haematoljbd202167.

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Diamond Blackfan Anaemia (DBA) is a rare disorder which presents with anaemia in early childhood. This heterogenous disorder is mainly autosomal dominantly inherited. Significantproportions of the cases are associated with craniofacial anomalies and some cases may end up developing malignancy. The diagnosis is established by blood investigations, and bone marrow studies in which red cell precursors are reduced or absent. Screening for the mutations including those encoding for ribosomal proteins in the patient and the family members is confirmatory for diagnosis. Human Leukocyte Antigen (HLA) matched hemopoietic stem cell transplantation is the definitive treatment of choice. In other cases, corticosteroids have been tried. The haemoglobin level is maintained with packed red cell transfusion. We are presenting here a male baby who had anaemia soon after birth and was brought to us at the age of 1 year 3 months. The diagnosis of DBA was made since the patient presented with anaemia and supportive biochemical and histological evidence. Genetic screening revealed mutation in ribosomal protein S19 (RPS19) gene in the baby.
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Schved, Jean-Francois, and Muriel Giansily-Blaizot. "Potential predictors of bleeding risk in inherited factorVII deficiency." Thrombosis and Haemostasis 94, no. 11 (2005): 901–6. http://dx.doi.org/10.1160/th05-06-0407.

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SummaryDue to the wide molecular and clinical heterogeneities of inherited factor VII (FVII) deficiency, consensus guidelines for management of this coagulation disorder are not currently well established. Therefore, potential clinical, plasmatic or genetic criteria, that could be predictive for bleeding tendency in this condition, have been evaluated. Genotypic criteria including FVII genotypes and thrombophilic mutations are of particular interest to better understand some of the variations observed in bleeding phenotypes but they are still poorly informative for the management of surgery in FVII-deficient patients. Up to now, no plasma parameters have been found to be reliable predictors of bleeding risk. Nevertheless, tissue factor and platelet pathways remain to be explored. Finally, clinical history appears to be the best predictor of bleeding risk after haemostatic challenges in inherited FVII deficiencies. Furthermore, the absence of history of bleeding or mild bleeding phenotypes including menorrhagia, bruises and epistaxis (not inducing iron deficiency anaemia or requiring blood substitutive treatment) could enable minor surgery to be performed in FVII-deficient patients without blood replacement therapy.
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Kotb, Mohammed Mahmoud, Mohammed J. Almalki, Yasser Hassan, Anwar Al Sharif, Maseer Khan, and Kamaludin Sheikh. "Effect of Health Education Programme on the Knowledge of and Attitude about Sickle Cell Anaemia among Male Secondary School Students in the Jazan Region of Saudi Arabia: Health Policy Implications." BioMed Research International 2019 (July 25, 2019): 1–6. http://dx.doi.org/10.1155/2019/9653092.

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This study was conducted to develop an instructional programme on sickle cell anaemia (SCA) and test the effect of the programme on the secondary school students’ knowledge of and attitude towards sickle cell anaemia in the Jazan region of Saudi Arabia. A pretest/posttest one-arm interventional study was conducted at the Faculty of Public Health and Tropical Medicine, Jazan University, with a convenience sample of 120 male students. The intervention consisted of two interactive sessions about sickle cell anaemia and premarital screening. The mean student knowledge score was 6.04 ± 3.02 on the pretest, which improved to 10.73 ± 3.47 on the posttest, with a statistically significant difference (t = 15.2, p < 0.001). There was no significant difference in the responses pertaining to attitude before and after the health education intervention. The policy implications of these findings are discussed to improve the performance of the Saudi healthcare system in dealing with this costly inherited disease.
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Agapidou, Alexandra, Laura Aiken, Lisa Linpower, and Dimitris A. Tsitsikas. "Ischemic Monomeric Neuropathy in a Woman with Sickle Cell Anaemia." Case Reports in Hematology 2016 (2016): 1–3. http://dx.doi.org/10.1155/2016/8628425.

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Sickle cell disease is an inherited haemoglobinopathy that can affect multiple organs and systems. The most common neurological complication in sickle cell disease is stroke and silent cerebral infarcts. Peripheral nervous system involvement has been described but is exceedingly rare. Herein, we describe the case of a young woman who presented with acute flaccid paralysis and sensory loss of the left lower extremity in the context of a painful vasoocclusive crisis which resolved rapidly after receiving an emergency automated red cell exchange transfusion.
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Bhat, Vivekananda, Dhanya Lakshmi Narayanan, and Anju Shukla. "Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect." BMJ Case Reports 14, no. 6 (June 2021): e239755. http://dx.doi.org/10.1136/bcr-2020-239755.

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Disorders of intracellular cobalamin metabolism are a group of metabolic disorders that lead to varied clinical presentation from intrauterine life to adulthood. We report a male infant with developmental regression, macrocytic anaemia and hyperpigmentation. Exome sequencing identified a homozygous pathogenic variant in the MMADHC gene, known to cause homocystinuria, cblD type (MIM #277410). We describe significant clinical improvement with targeted therapy and emphasise the relevance of genomic testing in accurate management of inherited metabolic disorders.
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Aziz, Md Abdul, Mesba Uddin Chowdhury, Rafiquzzaman Khan, Md Salauddin Shah, and Shafiqul Islam. "Fanconi Anaemia – A Rare Case Report." Bangladesh Medical Research Council Bulletin 42, no. 3 (April 18, 2017): 147–49. http://dx.doi.org/10.3329/bmrcb.v42i3.32228.

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Fanconi anaemia is a rare and most common form of inherited aplastic anaemia. It is mostly autosmal (except one x link) recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both haematological malignancy and solid tumours. Congenital malformation varies from patient to patient and may affect the skeletal system as well as organ systems. Highly variable phenotypic presentation with clinical menifestations makes difficult for diagnosis in some cases. Chromosomal breakage study induce by Mitomycin-C (MMC)/Diepoxybutane(DEB) provide a unique cellular marker for the diagnosis.The incidence of FA is approximately 1 to 5 per million. In Bangladesh, so far no study or even any case was reported. In this case report, a two years nine months old male child presented with generalized weakness , recurrent episodes of fever and physical deformities. It was found him short stature, microcephaly, trianguler face,generalized hyperpigmentation with café au lait spots,absent both thumbs with flexor deformity of both wrists. Peripheral smear found bicytopenia, bone marrow aspiration and biopsy showed hypoplastic marrow mildly elevated LDH, X-ray and USG showed bone and organ agenesis and chromosomal breakage study is also positive.
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34

Adhikari, Ram Chandra, T. B. Shrestha, R. B. Shrestha, R. C. Subedi, K. P. Parajuli, and S. Dali. "SICKLE CELL DISEASE - CASE REPORTS." Journal of Nepal Medical Association 42, no. 145 (January 1, 2003): 36–38. http://dx.doi.org/10.31729/jnma.715.

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ABSTRACTSickle cell diseases are inherited hematological diseases, prevalent in certain parts of the world. We reporttwo cases of sickle cell diseases, first being sickle cell b-thalassaemia and second homozygous sickle celldisease (SS). Our first case was 5 year old boy presenting with hemolytic anaemia & hepatosplenomegalyhaving sickle cell b-thalassaemia disease . Second case was 17 years female presenting with hemolyticanaemia & joint pain having homozygous sickle cell disease.Key Words: Homozygous sickle cell disease, sickle cell b - thalassaemia, hemoglobin electrophoresis.
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Rahman, Mohammad Ferdous Ur, and Manosh Kumar Mondal. "Wilson’s Disease Presenting with Severe Anaemia and Bleeding Manifestation: A Case Report." BIRDEM Medical Journal 7, no. 3 (August 30, 2017): 233–34. http://dx.doi.org/10.3329/birdem.v7i3.33786.

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Wilson’s disease is an inherited disorder in which defective biliary excretion of copper leads to its accumulation, particularly in liver and brain. Presentation can vary, but the key features of Wilson’s disease are hepatic and neuropsychiatric disturbances, Kayser–Fleischer rings of the cornea, acute episodes of hemolysis and sometimes renal impairment. Here, we report a case of Wilson’s disease in a young female having severe anaemia without other evidence of hepatic and neuropsychiatric manifestation.Birdem Med J 2017; 7(3): 233-234
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36

Crook, Richard, and Kyrie Wheeler. "Falsely low activated clotting time measured in a patient with sickle cell trait." Perfusion 34, no. 4 (January 10, 2019): 334–36. http://dx.doi.org/10.1177/0267659118822945.

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Sickle cell anaemia results from homozygosity of an A-T point mutation leading to a substitution of glutamic acid for valine at point 6 of the β-globin gene. A person with sickle cell trait inherits one normal and one mutated allele. Patients with sickle cell anaemia, and to a lesser extent sickle cell trait, have a wide spectrum of haemostatic abnormalities. Here we describe the problems faced in obtaining an accurate activated clotting time measurement, in a patient with sickle cell trait, prior to commencement of cardiopulmonary bypass for decannulation of Berlin Heart.
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37

Helbling-Leclerc, Anne, Cécile Garcin, and Filippo Rosselli. "Beyond DNA repair and chromosome instability—Fanconi anaemia as a cellular senescence-associated syndrome." Cell Death & Differentiation 28, no. 4 (March 15, 2021): 1159–73. http://dx.doi.org/10.1038/s41418-021-00764-5.

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AbstractFanconi anaemia (FA) is the most frequent inherited bone marrow failure syndrome, due to mutations in genes encoding proteins involved in replication fork protection, DNA interstrand crosslink repair and replication rescue through inducing double-strand break repair and homologous recombination. Clinically, FA is characterised by aplastic anaemia, congenital defects and cancer predisposition. In in vitro studies, FA cells presented hallmarks defining senescent cells, including p53-p21 axis activation, altered telomere length, mitochondrial dysfunction, chromatin alterations, and a pro-inflammatory status. Senescence is a programme leading to proliferation arrest that is involved in different physiological contexts, such as embryogenesis, tissue remodelling and repair and guarantees tumour suppression activity. However, senescence can become a driving force for developmental abnormalities, aging and cancer. Herein, we summarise the current knowledge in the field to highlight the mutual relationships between FA and senescence that lead us to consider FA not only as a DNA repair and chromosome fragility syndrome but also as a “senescence syndrome”.
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38

Li, Xuejin, E. Du, Huan Lei, Yu-Hang Tang, Ming Dao, Subra Suresh, and George Em Karniadakis. "Patient-specific blood rheology in sickle-cell anaemia." Interface Focus 6, no. 1 (February 6, 2016): 20150065. http://dx.doi.org/10.1098/rsfs.2015.0065.

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Sickle-cell anaemia (SCA) is an inherited blood disorder exhibiting heterogeneous cell morphology and abnormal rheology, especially under hypoxic conditions. By using a multiscale red blood cell (RBC) model with parameters derived from patient-specific data, we present a mesoscopic computational study of the haemodynamic and rheological characteristics of blood from SCA patients with hydroxyurea (HU) treatment (on-HU) and those without HU treatment (off-HU). We determine the shear viscosity of blood in health as well as in different states of disease. Our results suggest that treatment with HU improves or worsens the rheological characteristics of blood in SCA depending on the degree of hypoxia. However, on-HU groups always have higher levels of haematocrit-to-viscosity ratio (HVR) than off-HU groups, indicating that HU can indeed improve the oxygen transport potential of blood. Our patient-specific computational simulations suggest that the HVR level, rather than the shear viscosity of sickle RBC suspensions, may be a more reliable indicator in assessing the response to HU treatment.
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Saadi, Nebal Wael. "Early onset familial relapsing polyneuropathy, mimicking CIDP; A lesson from clinical genetics." Journal of the Faculty of Medicine Baghdad 62, no. 4 (February 21, 2021): 128–31. http://dx.doi.org/10.32007/jfacmedbagdad.6241765.

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Background: In children, chronic immune-mediated neuropathies present with slowly progressive or relapsing episodes of gait difficulty, symmetric weakness and sometimes paraesthesia. Infancy and early childhood age of presentation and familial recurrence are believed to be atypical features. Case presentation: Herein, we describe two brothers from a non- consanguineous Iraqi family, who presented with episodes of acute immune-mediated demyelinating peripheral neuropathy in early infancy that relapsed recurrently. Mild haemolytic anaemia was also reported. Inherited metabolic disorders were suspected and Whole Exome Sequencing of the youngest brother revealed homozygous frame shift mutation in CD59 gene, confirming the diagnosis of autosomal recessive hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy (HACD59). Conclusion: The report highlights the advantage of genetic testing in such rare and inherited conditions. In the lack of necessary non-traditional diagnostic methods, it is substantial to maintain the accustomed medical practice and strategies, based on available clinical data.
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Tole, Soumitra, Ali Amid, Jillian Baker, Kevin Kuo, Jakob Pugi, and Manuel Carcao. "Mild Hereditary Spherocytosis without Accompanying Hereditary Haemochromatosis: An Unrecognised Cause of Iron Overload." Acta Haematologica 141, no. 4 (2019): 256–60. http://dx.doi.org/10.1159/000497175.

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Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia and has great variability in its presentation. Non-transfusion iron overload in HS has only been reported with co-inheritance of hereditary haemochromatosis (HHC). We present 4 unrelated patients of East Asian ethnicity with mild HS and significant non-transfusion iron overload in the absence of known disease-causing mutations in HHC genes. We hypothesise that, in patients with mild HS, life-long chronic haemolysis and erythropoietic drive may promote iron absorption. This suggests that mild HS may not be entirely benign, and that patients with mild HS should be monitored for iron overload.
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41

Piccin, A., A. O’Marcaigh, O. Smith, J. O’Riordan, M. Crowley, E. Vandenberg, N. Gardiner, and S. Mc Cann. "Outcome of bone marrow transplantation in acquired and inherited aplastic anaemia in the Republic of Ireland." Irish Journal of Medical Science 174, no. 3 (July 2005): 13–19. http://dx.doi.org/10.1007/bf03169141.

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42

Woodward, Emma R., and Stefan Meyer. "Fanconi Anaemia, Childhood Cancer and the BRCA Genes." Genes 12, no. 10 (September 27, 2021): 1520. http://dx.doi.org/10.3390/genes12101520.

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Fanconi anaemia (FA) is an inherited chromosomal instability disorder characterised by congenital and developmental abnormalities and a strong cancer predisposition. In less than 5% of cases FA can be caused by bi-allelic pathogenic variants (PGVs) in BRCA2/FANCD1 and in very rare cases by bi-allelic PGVs in BRCA1/FANCS. The rarity of FA-like presentation due to PGVs in BRCA2 and even more due to PGVs in BRCA1 supports a fundamental role of the encoded proteins for normal development and prevention of malignant transformation. While FA caused by BRCA1/2 PGVs is strongly associated with distinct spectra of embryonal childhood cancers and AML with BRCA2-PGVs, and also early epithelial cancers with BRCA1 PGVs, germline variants in the BRCA1/2 genes have also been identified in non-FA childhood malignancies, and thereby implying the possibility of a role of BRCA PGVs also for non-syndromic cancer predisposition in children. We provide a concise review of aspects of the clinical and genetic features of BRCA1/2-associated FA with a focus on associated malignancies, and review novel aspects of the role of germline BRCA2 and BRCA1 PGVs occurring in non-FA childhood cancer and discuss aspects of clinical and biological implications.
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43

Elnaim, Elteleb G., Samar Ibrahim, Duaa Ahmed, Rayan Aldaw, Nagwa Salih, Muna Musa, Esraa Yosuif, et al. "Investigate of Haemostatic and Fibrinolytic System Parameters among Sickle Cell Anaemia Patients in the Khartoum State." Indian Journal of Pharmaceutical and Biological Research 8, no. 02 (June 25, 2020): 01–05. http://dx.doi.org/10.30750/ijpbr.8.2.1.

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Introduction: A sickle cell anaemia one of a haemoglobinopathy, which constituted as a model for genetically inherited disorders, the course of the disease involves may crises, the investigation of hemostatic components as fibrinogen and fibrinolysis as D-dimer, reflect the overall hemostatic status in the sickle cell anaemia patients. Aim: To investigates hemostatic and fibrinolytic system parameters among sickle cell anaemia patients in the Khartoum state. Methods: The study was conducted in Khartoum state, in JafarIbn Auf Reference Hospital for children as descriptive case-control, a laboratory-based study from 2017-18, specimens were collected randomly of the study population with irrespective to age and gender, blood draw in tri-sodium citrate container, the ethical and consent were obtained. The fibrinogen level was estimated by CA51 semi-automated coagulation analyzer optically based, and the D-dimer were assayed by MISPA-i2, a nephelometric based, the results for each parameter were recorded and using statistical package for the social sciences (SPSS) software for analysis by independent T-test and the statistical significance > 0.05. Results: A hundred participants fifty as study group (HbSS) sickle cell anemic Sudanese child clinically and laboratory-confirmed and fifty healthy as the control group, in comparing a mean of fibrinogen show statistically insignificant (P value 0.645) study group 291.1 ± 107.8 mg/dL and control group 283.4 ± 49.1 mg/dL, but there was a significant difference in comparing a mean of D-dimer in study group 0.56 ± 0.33 μg/mL and control group 0.33 ± 0.14 the P. value 0.00015. Conclusion: The level of D-dimer may be used as a hypercoagulability biomarker in comparison to the level of fibrinogen level for sickle cell anaemia Sudanese child.
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Morlé, Laurette, Brigitte Pothier, Nicole Alloisio, Marie-Thérése Ducluzeau, Sandra Marques, Gabriel Olim, João Martins Silva, et al. "Red cell membrane alteration involving protein 4.1 and protein 3 in a case of recessively inherited haemolytic anaemia." European Journal of Haematology 38, no. 5 (April 24, 2009): 447–55. http://dx.doi.org/10.1111/j.1600-0609.1987.tb01443.x.

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45

Hess, Sonja Y., K. Ryan Wessells, Guy-Marino Hinnouho, Maxwell A. Barffour, Kanokwan Sanchaisuriya, Charles D. Arnold, Kenneth H. Brown, Charles P. Larson, Supan Fucharoen, and Sengchanh Kounnavong. "Iron status and inherited haemoglobin disorders modify the effects of micronutrient powders on linear growth and morbidity among young Lao children in a double-blind randomised trial." British Journal of Nutrition 122, no. 8 (July 15, 2019): 895–909. http://dx.doi.org/10.1017/s0007114519001715.

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AbstractSome studies found that providing micronutrient powder (MNP) causes adverse health outcomes, but modifying factors are unknown. We aimed to investigate whether Fe status and inherited Hb disorders (IHbD) modify the impact of MNP on growth and diarrhoea among young Lao children. In a double-blind controlled trial, 1704 children of age 6–23 months were randomised to daily MNP (with 6 mg Fe plus fourteen micronutrients) or placebo for about 36 weeks. IHbD, and baseline and final Hb, Fe status and anthropometrics were assessed. Caregivers provided weekly morbidity reports. At enrolment, 55·6 % were anaemic; only 39·3 % had no sign of clinically significant IHbD. MNP had no overall impact on growth and longitudinal diarrhoea prevalence. Baseline Hb modified the effect of MNP on length-for-age (LAZ) (P for interaction = 0·082). Among children who were initially non-anaemic, the final mean LAZ in the MNP group was slightly lower (–1·93 (95 % CI –1·88, –1·97)) v. placebo (–1·88 (95 % CI –1·83, –1·92)), and the opposite occurred among initially anaemic children (final mean LAZ –1·90 (95 % CI –1·86, –1·94) in MNP v. –1·92 (95 % CI –1·88, –1·96) in placebo). IHbD modified the effect on diarrhoea prevalence (P = 0·095). Among children with IHbD, the MNP group had higher diarrhoea prevalence (1·37 (95 % CI 1·17, 1·59) v. 1·21 (95 % CI 1·04, 1·41)), while it was lower among children without IHbD who received MNP (1·15 (95 % CI 0·95, 1·39) v. 1·37 (95 % CI 1·13, 1·64)). In conclusion, there was a small adverse effect of MNP on growth among non-anaemic children and on diarrhoea prevalence among children with IHbD.
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Aroke, Desmond, Benjamin Momo Kadia, and Tsi Njim. "Iron stores in pregnant women with sickle cell disease: a protocol for a systematic review and meta-analysis." BMJ Open 9, no. 9 (September 2019): e026497. http://dx.doi.org/10.1136/bmjopen-2018-026497.

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IntroductionSickle cell disease (SCD) is the most common inherited disease worldwide. The greatest disease burden is seen in sub-Saharan Africa. Early diagnosis and improved care of people living with SCD have led to an increase in the number of women with SCD reaching the reproductive age. Iron deficiency anaemia remains the most common cause of anaemia in pregnancy, affecting 51%–63% of pregnancies in Africa. However, the unavailability of guidelines on supplementation of iron in this pregnant subpopulation often leaves clinicians in a fix. We propose to conduct the first systematic review and possibly a meta-analysis on the prevalence, associated factors and maternal/fetal outcomes of iron deficiency anaemia among pregnant women with SCD.Methods and analysisWe will search the following electronic databases for studies on the iron status of pregnant women with SCD: PubMed, MEDLINE, EMBASE, Google Scholar, African Journals Online, African Index Medicus, Popline and the Cochrane Library. After the selection of eligible studies from the search output, review of full text, data extraction and data synthesis will be performed. Studies obtained from the review shall be evaluated for quality, risk of bias and heterogeneity. Appropriate statistical methods shall be used to pool prevalence estimates for matching studies globally and in subpopulations. This protocol has been reported as per the 2015 guidelines of the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols.Ethics and disseminationThere is no requirement for ethical approval as the proposed study will use published data. The findings of this study will be published in a peer-reviewed journal and will be presented at conferences.Trial registration numberCRD42018109803.
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Pauty, Joris, Amélie Rodrigue, Anthony Couturier, Rémi Buisson, and Jean-Yves Masson. "Exploring the roles of PALB2 at the crossroads of DNA repair and cancer." Biochemical Journal 460, no. 3 (May 29, 2014): 331–42. http://dx.doi.org/10.1042/bj20140208.

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PALB2 [partner and localizer of BRCA2 (breast cancer early-onset 1)] has emerged as a key player in the maintenance of genome integrity. Biallelic mutations in PALB2 cause FA (Fanconi's anaemia) subtype FA-N, a devastating inherited disorder marked by developmental abnormalities, bone marrow failure and childhood cancer susceptibility, whereas monoallelic mutations predispose to breast, ovarian and pancreatic cancer. The tumour suppressor role of PALB2 has been intimately linked to its ability to promote HR (homologous recombination)-mediated repair of DNA double-strand breaks. Because PALB2 lies at the crossroads between FA, HR and cancer susceptibility, understanding its function has become the primary focus of several studies. The present review discusses a current synthesis of the contribution of PALB2 to these pathways. We also provide a molecular description of FA- or cancer-associated PALB2 mutations.
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Fofou-Caillierez, Ma'atem B., Nadir T. Mrabet, Céline Chéry, Natacha Dreumont, Justine Flayac, Mihaela Pupavac, Justine Paoli, et al. "Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia." Human Molecular Genetics 22, no. 22 (July 3, 2013): 4591–601. http://dx.doi.org/10.1093/hmg/ddt308.

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49

Musonda, Taonga, Mildred Zulu, Mulemba Samutela, Annie Kalonda, Hamakwa Mantina, Pauline Okuku, Musalula Sinkala, and Panji Nkhoma. "Leucocytosis and Asymptomatic Urinary Tract Infections in Sickle Cell Patients at a Tertiary Hospital in Zambia." Anemia 2020 (June 3, 2020): 1–5. http://dx.doi.org/10.1155/2020/3792728.

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Sickle cell anaemia (SCA) is an inherited disease resulting from mutations in the β-globin chain of adult haemoglobin that results in the formation of homozygous sickle haemoglobin. It is associated with several complications including an altered blood picture and damage in multiple organs, including the kidneys. Kidney disease is seen in most patients with SCA and may affect glomerular and/or tubular function, thereby putting these patients at risk of urinary tract infections. However, there is a paucity of data on the prevalence of urinary tract infections (UTIs) among SCA patients in Zambia. This study aimed to determine the prevalence of UTIs and haematological and kidney function profiles among SCA patients at the University Teaching Hospitals, Lusaka, Zambia. This was a cross-sectional study conducted between April and July 2019 involving 78 SCA patients who presented at the UTH. Blood and midstream urine samples were collected from each participant using the standard specimen collection procedures. Full blood counts and kidney function tests were determined using Sysmex XT-4000i haematology analyser and the Pentra C200 by Horiba, respectively. Bacterial profiles of the urine samples were determined using conventional microbiological methods. We found that all the measured patients’ haemoglobin (Hb) levels fell below the WHO-recommended reference range with a minimum of 5 g/dl, a maximum of 10.5 g/dl, and a mean of 8 ± 1 g/dl. Fifty percent of the participants had moderate anaemia, while the other 50% had severe anaemia. The minimum WBC count of the participants was 0.02 × 109/L with a maximum of 23.36 × 109/L and a mean of 13.48 ± 3.87 × 109/L. Using the one-way analysis of variance test, we found no significant difference in mean WBC count and Hb concentration across various age-group categories that we defined. Bacteriuria was found in 25% of participants. The most common bacterial isolates were Staphylococcus aureus (32%) and coagulase-negative Staphylococci (32%). Klebsiella pneumoniae was 16%. We found no significant association between bacterial isolates and white blood cell count, age groups, sex, and anaemia severity p=0.41. None of the participants were diagnosed with kidney disease. There was a high prevalence of asymptomatic UTIs among SCA patients at UTH, which, when coupled with the marked leukocytosis and anaemia, may negatively impact the clinical outcome of the patients. Therefore, we recommend close monitoring of sickle cell patients in Zambia for such conditions to improve patients’ outcomes.
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Walsh, Patrick R., and Sally Johnson. "Treatment and management of children with haemolytic uraemic syndrome." Archives of Disease in Childhood 103, no. 3 (September 12, 2017): 285–91. http://dx.doi.org/10.1136/archdischild-2016-311377.

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Abstract:
Haemolytic uraemic syndrome (HUS), comprising microangiopathic haemolytic anaemia, thrombocytopaenia and acute kidney injury, remains the leading cause of paediatric intrinsic acute kidney injury, with peak incidence in children aged under 5 years. HUS most commonly occurs following infection with Shiga toxin-producing Escherichia coli (STEC-HUS). Additionally, HUS can occur as a result of inherited or acquired dysregulation of the alternative complement cascade (atypical HUS or aHUS) and in the setting of invasive pneumococcal infection. The field of HUS has been transformed by the discovery of the central role of complement in aHUS and the dawn of therapeutic complement inhibition. Herein, we address these three major forms of HUS in children, review the latest evidence for their treatment and discuss the management of STEC infection from presentation with bloody diarrhoea, through to development of fulminant HUS.
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