Cent Eur J Public Health 2012, 20(4):239-243 | DOI: 10.21101/cejph.a3755

Nineteen Years Study of Beta-Thalassaemia in Slovakia

Viera Fábryová¹, Pavol Babušík², Zuzana Laluhová-Striežencová³, Monika Drakulová⁴, Martina Oslancová³, Martina Macichová⁵, Adriana Sakalová⁶

¹ Department of Haematology, Military Hospital, Bratislava, Slovakia

² Laboratory of Molecular Genetics, ProGen Company, Nitra, Slovakia

³ Department of Haematology, Pediatric Faculty Hospital and Clinic, Bratislava, Slovakia

⁴ Laboratory of Haematology, Synlab Company, University Hospital in Kramáre, Bratislava, Slovakia

⁵ Department of Haematology, L. Pasteur Faculty Hospital, Košice, Slovakia

⁶ Department of Haematology and Transfusiology, Slovak Postgradual University, Bratislava, Slovakia

Background: Beta-thalassaemia is a congenital disorder caused by point mutations in a haemoglobin beta-globin chain. The heterozygous form produces microcytosis and normal iron levels, however, haemoglobin electrophoresis shows elevated amounts of haemoglobin A₂ and eventually foetal haemoglobin F as well.

Methods: Between 2005-2011, 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 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 402 patients (21.9%) out of a total of 1,834 examinations. From these patients, 87 underwent molecular genetic testing and mutations of beta globin genes were identified in 70 of them, where the most frequent mutations were IVS 2.1 (28.5%), IVS 1.110 (25.6%) and IVS 1.1 (11.3%). Evidence of haemoglobin S (sickle cell anaemia) was also notable in one case (patient of African origin). Unusually high levels of haemoglobin F (6-21%) were found in 23 adult subjects.

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-thalassaemia, beta-globin chain, gene mutation, epidemiological study

Received: December 16, 2011; Revised: July 2, 2012; Accepted: July 2, 2012; Published: December 1, 2012  Show citation