[Application of mPCR and MLPA in diagnostics of alpha-thalassaemia].

The thalassamias are inherited disorders resulting from unbalanced synthesis of normal polypeptide chains of haemoglobins: of alpha chains in alpha-thalassemia and of beta chains in beta-thalassemia. In Poland, in contrast to beta-thalassaemia, there is no routine diagnostic approach to alpha-thalassaemia. In the present study, for detection of alpha-thalassemia we employed Multiplex-PCR (mPCR) and Multiplex Ligation-dependent Probe Amplification (MPLA).

[Beta-Thalassemia in Poland. I. Mediterranean mutations in beta-thalassemia].

Unlabelled: The aim of the present investigation was to verify a common view that thalassemia in Poland is a very rare disease.

Material And Methods: 600 patients (270 male and 330 female) aged 2-85 years with microcytosis and no evidence of iron deficiency were examined for beta-thalassemia. Hemoglobin A2 and hemoglobin F and bilirubin were evaluated.