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Alpha-thalassemia in 45 Czech and 37 immigrant families: review of the literature and molecular diagnosis


Authors: M. Divoká 1;  M. Partschová 2;  D. Pospíšilová 3;  M. Orviská 1;  A. Lapčíková 1;  K. Indrák 1;  J. Čermák 4;  V. Divoký 1,2
Authors‘ workplace: Hemato-onkologická klinika, Lékařská fakulta Univerzity Palackého a Fakultní nemocnice Olomouc 1;  Ústav biologie, Lékařská fakulta Univerzity Palackého v Olomouci 2;  Dětská klinika, Lékařská fakulta Univerzity Palackého v Olomouci a Fakultní nemocnice Olomouc 3;  Ústav hematologie a krevní transfuze, Praha 4
Published in: Transfuze Hematol. dnes,22, 2016, No. 3, p. 201-209.
Category: Comprehensive Reports, Original Papers, Case Reports

Overview

Alpha-thalassemia is the most common monogenic gene disorder in the world. It is an inherited autosomal recessive disorder characterized by reduced production of the α-globin chains of hemoglobin. It belongs, together with other types of thalassemias and hemoglobinopathies, to common globin gene disorders widely distributed due to their natural selection through protection of carriers against severe malaria. Alpha-thalassemia most frequently results from deletions removing segments of DNA from the α-globin gene cluster on chromosome 16 and is characterized by a microcytic hypochromic anemia, with a clinical phenotype varying from almost asymptomatic to a lethal hemolytic anemia. Alpha-thalassemia is especially frequent in populations originating from the South East Asia, Mediterranean region, Africa and Indian subcontinent, with rare occurrence in Central Europe. However, also in our region the presence of α-thalassemia should be considered as a possible cause of hereditary microcytic anemia. Specialized diagnostic approaches that are needed for correct diagnosis of α-thalassemia involve molecular analysis required to confirm the hematological and biochemical observations. The aim of this study is to report the variable phenotype and genotype of these disease states in the Czech families and in immigrants living in the Czech Republic.

KEY WORDS:
hemoglobinopathy – α-thalassemia – HbH disease – molecular diagnostics


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Haematology Internal medicine Clinical oncology

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