Rare forms of hereditary anaemia in the Czech and Slovak populations - β- and δβ-thalassaemia and unstable haemoglobin variants

Česká verzia

Authors: V. Divoký ^1,2; S. Walczysková ²; D. Pospíšilová ³; I. Kostelecká ²; M. Divoká ¹; Š. Vlachová ¹; M. Jarošová ¹; J. Čermák ⁴; K. Indrák ¹; Česko-Slovenská Kooperativní Skupina Pro Diagnostiku Hemoglobinopatií
Authors place of work: Hematoonkologická klinika Lékařské fakulty UP a FN, Olomouc, přednosta prof. MUDr. Karel Indrák, DrSc. ¹; Ústav biologie Lékařské fakulty UP, Olomouc, přednosta prof. RNDr. Karel Lenhart, DrSc. ²; Dětská klinika Lékařské fakulty UP a FN, Olomouc, přednosta prof. MUDr. Vladimír Mihál, CSc. ³; Ústav hematologie a krevní transfuze, Praha, ředitel prof. MUDr. Pavel Klener, DrSc. ⁴
Published in the journal: Vnitř Lék 2005; 91(7 a 8): 886-893
Category: 128th Internal Medicine Day - 21rd Vanysek's Day Brno 2005

Summary

The authors present a review of the spectrum and frequency of mutations of the β-globin gene in the Czech and Slovak patients with clinical symptoms of β-thalassaemia or δβ-thalassaemia and of Heinz body haemolytic anaemia associated with unstable haemoglobinopathies. In the Czech and Slovak populations, β-thalassaemia appears to be an uncommon disorder, which, however, must be considered as the prevailing cause of congenital hypochromic microcytic anaemia. All β-thalassaemia patients were heterozygous, manifesting thalassaemia minor, with rare exceptions of dominantly inherited β-thalassaemia with phenotype that ranged from severe thalassaemia minor to thalassaemia intermedia. We hypothesize that genetic drift and migration in the past are responsible for introduction of the Mediterranean alleles, while several mutations, described in single families, originated locally in the Czech Republic and Slovakia.

Key words:
β-thalassaemia - Heinz body haemolytic anaemia - unstable haemoglobin variants - Czech and Slovak populations

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