Molecular Heterogeneity of Beta-Thalassemia Intermedia in Turkey

Publisher Website
Google Scholar
Abstract
A total of 38 patients with .beta.-thalassemia intermedia from 30 families were studied. Twelve of the thirty unrelated patients had .beta.o-thalassemia which was due to a homozygosity for one of two different thalassemia defects, namely the frameshift at codon 8, and the IVS-II-1 G .fwdarw. A mutation. Another mild variation, a .beta.+-thalassemia, was a homozygosity for the mutation of T .fwdarw. C at position of 6 IVS-1 (10 patients). Compound heterozygosities for mild thalassemic determinants or for one mild and one severe .beta.-thalassemic determinant were found also in some patients with .beta.-thalassemia intermedia. The mutations at .beta.-39 and IVS-I-110 were the most commonly occurring thalassemic determinants in these patients. Correlations between genotype and phenotype indicated significant differences in some of the hematological parameters among patients with the IVS-I-6 and the frameshift at codon 8, IVS-I-6 and IVS-II-1, and the frameshift at codon 8 and IVS-II-1 mutations. v.