[Application of mPCR and MLPA in diagnostics of alpha-thalassaemia]. / Zastosowanie metod mPCR i MLPA w diagnostyce talasemii alpha.

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). 48 patients with microcytosis and normal or decreased level of haemoglobin HbA2 were examined. In 10 patients three different kinds of deletion mutations in alpha-globin genes were detected: homozygotes and heterozygotes of -alpha(3.7) mutation (-alpha(3.7/-alpha(3.7) and -alpha(3.7)alpha alpha respectively), heterozygotes of Asian mutations (--SEA/alpha alpha), and a heterozygote of Mediterranean mutation (--MED alpha alpha). Our results demonstrate the usefulness of the combined methods of mPCR and MLPA in the diagnostics of alpha-thalassaemia.

[Beta-Thalassemia in Poland. I. Mediterranean mutations in beta-thalassemia]. / Beta-talasemia w Polsce. I. Mutacje sródziemnomorskie.

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. Patients with elevated A2 hemoglobin concentration were examined for 8 common Mediterranean mutations. RESULTS: Hemoglobin A2 was increased in 106 patients. In 48 patients there was also an elevation of hemoglobin F and in 42 - of serum bilirubin. 7 different mutations were detected in 46 heterozygous patients (numbers of patients with a particular mutation are in square brackPis): IVS1-6(T>C) [15], IVS2-745(C>G) [14], IVS2-1(G>A) [10], IVS1-1(G>A) [2], CD6-A [2], CD39(C>T) [2], IVS1-110(G>A) [1]. CONCLUSIONS: Frequencies of individual mutations in Poland were different from those encountered in Mediterranean and some Central European countries. Our data indicate that fl-thalassemia in Poland is not a rare disease and should be considered in differential diagnosis of hypochromic anemia.