Relevant bibliographies by topics / Thalassaemia intermedia; Haemoglobin

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Academic literature on the topic 'Thalassaemia intermedia; Haemoglobin'

Author: Grafiati
Published: 4 June 2021
Last updated: 7 February 2022

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Journal articles on the topic "Thalassaemia intermedia; Haemoglobin"

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Shrestha, H. G., P. Hamal, B. K. Man Singh, N. Nakanishi, and D. T. Sada. "B-Thalassaemia: A Case Report." Journal of Nepal Medical Association 26, no. 4 (January 1, 2003): 39–43. http://dx.doi.org/10.31729/jnma.1652.

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A case report of B-thalassaemia intermedia was diagnosed in a 22 years women old Nepalese on the basis of the investigations of blood, bone marrow, haemoglobin electrophoresis and X-rays with clinical findings.
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Ashtiani, M. T. H., M. Monajemzadeh, A. H. Sina, F. Berenji, M. Abdollahi, M. G. Said, and M. Alam. "Prevalence of haemoglobinopathies in 34 030 healthy adults in Tehran, Iran." Journal of Clinical Pathology 62, no. 10 (September 25, 2009): 924–25. http://dx.doi.org/10.1136/jcp.2009.064568.

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Background:Haemoglobinopathies are a group of inherited disorders of haemoglobin synthesis. Their frequency varies considerably with geographic location and ethnic group.Aims:To establish the prevalence of haemoglobinopathies in a mainly healthy Iranian population.Methods:All files of the haematology unit of the Boghrat laboratory over a period of 10 years (1998–2007) were analysed in relation to the age, sex, full blood count, haemoglobin electrophoresis results, high performance liquid chromatography (HPLC) findings, and iron profile of healthy subjects referred for consultation before marriage. Other tests were performed if indicated.Results:There were 34 030 files; 13 432 (39.5%) were for men, and 20 567 (60.4%) for women. 0.74% of subjects (255) showed a haemoglobinopathy. The distribution of variant haemoglobins in these 255 subjects was: Hb D 75.67% (193 cases), Hb S 4.7%, Hb E 3.13%, Hb O-Arab 1.96% and Hb Lepore 0.39%. A fast haemoglobin was found in 4.71% of subjects. Of the subjects tested, 13.2% (4478) had β-thalassaemia minor, 0.2% (52) β-thalassaemia intermedia and 0.1% (30) β-thalassaemia major.Conclusions:In comparison with other parts of world, there is a different pattern of haemoglobinopathy with a high prevalence of Hb D, which appears to be Hb D Iran.
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Mannoor, Kaiissar, Mohabbat Hossain, Farjana Akther Noor, Golam Sarwer Bhuyan, and Syeed Saleheen Qadri. "Role of XmnI polymorphism in HbF induction in HbE/β and β-thalassaemia patients." Bangladesh Medical Research Council Bulletin 45, no. 3 (December 30, 2019): 133–42. http://dx.doi.org/10.3329/bmrcb.v45i3.44642.

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Background: Thalassaemia is one of the most common genetic blood disorders worldwide. Patients with β-thalassaemia major and HbE/β-thalassaemia are blood transfusion dependent. Foetal haemoglobin or HbF can play a role in disease manifestations in these patients and there is evidence that a homozygous state for XmnI polymorphic site, associated with increased expression of Gγ-gene, may play an important role among other factors in ameliorating the clinical severity of homozygous β-thalassaemia and thalassaemia intermedia. The aim of this review was to provide a comprehensive review of the role of XmnI polymorphic site for increased HbF production in HbE/β and β-thalassaemia patients. Methods: Published literatures were reviewed on the allelic frequency of Xmn1 polymorphism and its effect on HbF induction among thalassaemia patients of different countries. Results: In all β-thalassaemias, Hb F levels are relatively increased due to the selective survival of the erythroid precursors that synthesize relatively more γ-chains. The expression of HbF level is dominated by three different loci: HBG2: γ -158C>T, BCL11A, and HBS1L-MYB intergenic region. Genetic determinants influencing Hb F response can be within the β-globin complex or trans-acting. The published literature showed that the C>T substitution (rs7482144) at position –158 of the Gγ-globin gene, referred to as the XmnI-Gγ polymorphism, is a common sequence variant in all population groups, present at a frequency of 0.32 to 0.35. It was found in some studies, response to Hydroxyurea (HU) has been shown to be largely associated with the presence of the C>T polymorphism at -158 XmnI site (HBG2:c.- 53-158C>T) upstream of the Gγ-globin gene and HU therapy exerts a 2- to 9- fold increase in γ-mRNA expression in β-thalassaemia patients. Conclusion: A number of various study groups around the world suggests that XmnI polymorphism is an important key regulator of disease severity of HbE/β and β-thalassaemia patients.
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Huang, Lv-Yin, and Dong-Zhi Li. "α-Haemoglobin pool measurement: a useful biomarker for evaluation of β-thalassaemia intermedia?" British Journal of Haematology 183, no. 4 (October 29, 2017): 673–74. http://dx.doi.org/10.1111/bjh.15008.

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Chang, Yen-Pei C., Roberto Littera, Raffaela Garau, Kirby D. Smith, George J. Dover, Sergio Iannelli, Enrico Cacace, and Licinio Contu. "The role of heterocellular hereditary persistence of fetal haemoglobin in β0 -thalassaemia intermedia." British Journal of Haematology 114, no. 4 (September 2001): 899–906. http://dx.doi.org/10.1046/j.1365-2141.2001.03042.x.

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Baldini, M., A. Marcon, R. Cassin, F. M. Ulivieri, D. Spinelli, M. D. Cappellini, and G. Graziadei. "Beta-Thalassaemia Intermedia: Evaluation of Endocrine and Bone Complications." BioMed Research International 2014 (2014): 1–5. http://dx.doi.org/10.1155/2014/174581.

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Objective. Data about endocrine and bone disease in nontransfusion-dependent thalassaemia (NTDT) is scanty. The aim of our study was to evaluate these complications inβ-TI adult patients.Methods. We studied retrospectively 70β-TI patients with mean followup of 20 years. Data recorded included age, gender, haemoglobin and ferritin levels, biochemical and endocrine tests, liver iron concentration (LIC) fromT2*, transfusion regimen, iron chelation, hydroxyurea, splenectomy, and bone mineralization by dual X-ray absorptiometry.Results. Thirty-seven (53%) males and 33 (47%) females were studied, with mean age41±12years, mean haemoglobin9.2±1.5 g/dL, median ferritin 537 (range 14–4893), and mean LIC7.6±6.4 mg Fe/g dw. Thirty-three patients (47%) had been transfused, occasionally (24/33; 73%) or regularly (9/33; 27%); 37/70 (53%) had never been transfused; 34/70 patients had been splenectomized (49%); 39 (56%) were on chelation therapy; and 11 (16%) were on hydroxyurea. Endocrinopathies were found in 15 patients (21%): 10 hypothyroidism, 3 hypogonadism, 2 impaired glucose tolerance (IGT), and one diabetes. Bone disease was observed in 53/70 (76%) patients, osteoporosis in 26/53 (49%), and osteopenia in 27/53 (51%).Discussion and Conclusions. Bone disease was found in most patients in our study, while endocrinopathies were highly uncommon, especially hypogonadism. We speculate that low iron burden may protect against endocrinopathy development.
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Taher, Ali, Hussain Isma’eel, Ghassan Mehio, Daniela Bignamini, Antonis Kattamis, Eliezer Rachmilewitz, and Maria Cappellini. "Prevalence of thromboembolic events among 8,860 patients with thalassaemia major and intermedia in the Mediterranean area and Iran." Thrombosis and Haemostasis 96, no. 10 (2006): 488–91. http://dx.doi.org/10.1160/th06-05-0267.

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SummaryBeta-thalassaemia isa congenital haemolytic anaemia characterized by partial (intermedia, TI) or complete (major, TM) deficiency in the production of β-globin chains.The primary aim of this study was to determine the prevalence of thromboembolic events in patients with β-thalassaemia.To achieve this,a multiple-choice questionnaire was sent to 56 tertiary referral centres in eight countries (Lebanon, Italy, Israel, Greece, Egypt, Jordan, Saudi Arabia and Iran), requesting specific information on patients who had experienced a thromboembolic event.The study demonstrated that thromboembolic events occurred ina clinically relevant proportion (1.65%) of 8,860 thalassaemia patients (TI – 24.7% or TM – 75.3%) from the Mediterranean and Iran. Thromboembolism occurred 4.38 times more frequently in TI thanTM (p<0.001), with more venous events occurring inTI and more arterial events occurring in TM.Thrombosis in thalassaemia was also more common in females, splenectomized patients and those with profound anaemia (haemoglobin <9 g/dl). Due to the increased risk of thromboembolic events, the rationale for splenectomy should perhaps be re-assessed and the role of transfusion therapy for the prophylaxis of thrombosis, among other complications, be evaluated prospectively.
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Bagheri, Hadi, Fatemeh Rastgu, Eliezer Rachmilewitz, and Mehran Karimi. "Magnetic resonance imaging to determine the incidence of brain ischaemia in patients with β-thalassaemia intermedia." Thrombosis and Haemostasis 103, no. 05 (2010): 989–93. http://dx.doi.org/10.1160/th09-09-0661.

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SummaryOne complication in patients with β-thalassaemia who had prolonged survival is chronic hypercoagulable state, which results in thromboembolic events involving major organs including the brain. We determined the prevalence of microthrombosis in the brain in an asymptomatic subgroup of patients with β-thalassaemia intermedia (TI) who had undergone splenectomy. This retrospective review included 200 patients with TI diagnosed on the basis of blood count, haemoglobin (Hb) electrophoresis and clinical data. Their ages ranged from 18 to 34 years, 19 (63.3%) were women and 11 (36.7%) were men. We selected 30 patients at random who fulfilled the inclusion criteria: Hb concentration >7 g/dl), splenectomy and platelet count >500,000/ml. Their mean Hb concentration was 8.4 g/dl and their mean ferritin concentration was 519 ng/ml. Magnetic resonance imaging (MRI) was done in every patient, and the findings were interpreted by an expert neuroradiologist. Imaging studies showed pathological findings in 28% of the patients. Six had changes in the white matter suggestive of ischaemia and two had evidence of small infarctions. Conclusion: 1) In this small subset of patients diagnostic magnetic resonance imaging to monitor early asymptomatic or subclinical vascular damage in the brain can be considered when they reach the age of 20 years, and repeated every 3–5 years. 2) Treatment with antiplatelet aggregants is suggested in patients with documented asymptomatic brain ischaemia. 3) These results require confirmation in a larger group of similar patients with other types of thalassaemia who are multitransfused or have an intact spleen.
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Inati, Adlette, Mario Kahale, Susan P. Perrine, David H. K. Chui, Ali T. Taher, Suzanne Koussa, Therese Abi Nasr, Hussein A. Abbas, and Richard G. Ghalie. "A phase 2 study of HQK-1001, an oral fetal haemoglobin inducer, in β-thalassaemia intermedia." British Journal of Haematology 164, no. 3 (November 13, 2013): 456–58. http://dx.doi.org/10.1111/bjh.12635.

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Vasseur, Corinne, Frédéric Galactéros, and Véronique Baudin-Creuza. "α-Haemoglobin pool measurement: a useful biomarker for evaluation of β-thalassaemia intermedia? - response to Huang and Li." British Journal of Haematology 183, no. 4 (October 26, 2017): 671–73. http://dx.doi.org/10.1111/bjh.15007.

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Dissertations / Theses on the topic "Thalassaemia intermedia; Haemoglobin"

1

Ho, Phoebe Joy. "The analysis of genetic factors regulating beta globin gene expression." Thesis, University of Oxford, 1997. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.363959.

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Book chapters on the topic "Thalassaemia intermedia; Haemoglobin"

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Hay, Deborah, and David J. Weatherall. "Disorders of the synthesis or function of haemoglobin." In Oxford Textbook of Medicine, edited by Chris Hatton and Deborah Hay, 5426–50. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0537.

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The inherited disorders of haemoglobin are the commonest single-gene disorders in the world. Disorders of haemoglobin can be genetic or acquired and due to disordered production of one or more globin chains or structural change in the globin chain. The most important disorders are the genetic conditions thalassaemia and sickle cell disease. Thalassaemia—a heterogeneous group of genetic disorders, all resulting from a reduced rate of production of one or more of the globin chains of haemoglobin and inherited in a simple Mendelian fashion. They are clinically classified according to their severity into major (a severe transfusion-dependent disorder), intermediate (characterized by anaemia and splenomegaly), and minor (a symptomless carrier state) forms. The β‎ thalassaemias are the most important types of thalassaemia because they are very common and produce severe anaemia in their homozygous and compound heterozygous states. Most countries in which the disease is common are putting a major effort into programmes for its prevention (population screening and prenatal diagnosis). Symptomatic management of severe disease requires regular blood transfusion, judicious use of splenectomy if hypersplenism develops, and chelating agents to reduce iron overload. Sickle cell disease—haemoglobin S differs from haemoglobin A by the substitution of valine for glutamic acid at position 6 in the β‎ globin chain, and homozygosity for haemoglobin S produces the state of sickle cell disease. This occurs very frequently in African populations and, sporadically, throughout the Mediterranean region and the Middle East, with extensive pockets in India. Management of both acute and chronic complications remains largely supportive, with hydroxycarbamide being the only clinically proven effective treatment to date.
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