Molecular characteristics of the thalassemia syndrome and prenatal diagnosis in a high risk family

: The diagnosis of thalassaemia maior has been established in a 6 months old infant by screenig tests. The sick child and his parents were included in the study. Reverse dote blot and allelle-specific PCR confirmed that the mother was heterozygous for mutation in the first intone of beta-globin chain at position 110-beta-IVSI-110. By gap-PCR it was established that the father was heterozygous for haemoglobinopathy Lepore. The child was double heterozygous for both mutations. During the next pregnancy, in the 11th week, faetal DNA was extracted from chorion villous. Fetus was heterozygous for haemoglobinopathy Lepore and carried the same mutation as the father. The parents the accepted information that the second child will be a silent carrier of mutation.