Regional distributions of beta-thalassemia mutations in Turkey.

ABSTRACT

The distributions of twelve beta-thalassemic mutations in samples (n = 139 chromosomal samples) from four regions of Turkey were determined. The frequencies of these mutations did not reveal a notable region specific heterogeneity. In particular, the four mutations, IVS.1/nt.110(G/A), IVS.1/nt.6(T/C), IVS.1/nt.1(G/A) and nonsense codon.39(C/T), with country-scale frequencies of 35.9%, 21.6%, 13.0% and 7.2%, respectively, were found to be distributed with rather similar frequencies also on a regional scale.