Via practica 4/2018
Hemoglobinopatie na Slovensku
Haemoglobinopathies in Slovakia
Background: Beta-thalassaemia is a congenital disorder cause by point mutations in a haemoglobin beta-globin chain. The heterozygous form produces microcytosis and normal iron levels, however, haemoglobin electrophoresis shows higher amounts of haemoglobin A2 eventually foetal haemoglobin F as well. Methods: Between 1993 – 2018, in three centres in Slovakia, carriers of beta-thalassaemic genes or other haemoglobinopathies were searched for. Diagnosis was performed by haematologists whereby the family history was evaluated, together with the overall clinical condition, blood count and blood smear, iron parameters, haemolysis parameters and haemoglobin electrophoresis testing. A proportion of patients was examined by molecular genetic methods. Results: A clinical suspicion of the heterozygous form of beta-thalassaemia was documented in 618 patients (7.1 % were foreigners). The mutations of haemoglobin genes were identified in 281 patients (45.32 %). The most frequent mutations were of mediterranean type. Evidence of haemoglobin S (sickle cell anaemia) was also notable in three cases. Conclusion: The study showed that there is a higher number of heterozygotes for beta-thalassaemia and rarely haemoglobinopathies. It is necessary to continue in search of pathological gene carriers in Slovakia.
Keywords: beta-globin chain, beta-thalassaemia, haemoglobinopathy, anaemia, electrophoresis of haemoglobin
