β-Thalassemia Mutations among Transfusion-Dependent Thalassemia Major Patients in Northern Iraq

الملخص EN

Molecular defects responsible for β-thalassemias (thal) were investigated among 254 chromosomes from 127 transfusion-dependent unrelated thalassemic patients from two provinces in Northern Iraq.

Among fourteen identified mutations, the seven most common found in 88.2% of the thal chromosomes were: IVS-II-1 (G→A), IVS-I-1 (G→A), codon 8 (-AA), codon 39 (G→T), codon 8/9 (+G), codon 44 (-C), and codon 5 (-CT).

There were some notable differences in frequencies of various mutations in comparison to other Eastern Mediterranean populations, as well as between the two provinces studied.

The latter illustrates the relative heterogeneity of the mutations distribution in Iraq, and the need to screen other areas of the country, to ensure establishing an effective prenatal program.