β thalassaemia mutations in Turkish Cypriots

Abstract

Using oligonucleotide hybridisation or restriction endonuclease analyis, we have characterised the molecular defect in 94 patients with thalassaemia major and four with thalassaemia intermedia of Turkish Cypriot descent. We found that four mutations, namely β+ IVS-1 nt 110, β° IVS-1 nt 1, β+ IVS-1 nt 6, and β+ IVS-2 nt 745 were prevalent, accounting for 69.9%, 11.7%, 8.7%, and 5.6% respectively of the β thalassaemia chromosomes. This information may help in the organisation of a large scale prevention programme based on fetal diagnosis of β thalassaemia by DNA analysis in the Turkish population.