β-Thalassemia Mutations in the Iranian Kurdish Population of Kurdistan and West Azerbaijan Provinces

Abstract

The aim of this study was to investigate the prevalence and spectrum of β-thalassemia (β-thal) mutations in the population of Sunni Muslim Kurds in western Iran and to set up a prenatal diagnostic laboratory. Sixty unrelated Kurdish β-thal patients identified in hematology clinics from different cities were studied. The mutations in 120 chromosomes were studied by polymerase chain reaction–amplification refractory mutation system and direct sequencing methods. We found fifteen β-thal mutations, and IVS-II-1 (G>A) was the most frequent, comprising 35% of all mutations. Other common mutations were frameshift codons 8/9 (+G) 15.7%, IVS-I-1 (G>A) 8%, FSC 5 (–CT) 6.7%, FSC 8 (–AA) 6.7%, and IVS-I-110 (G>A) 6%. This is the first comprehensive study in this region and could provide a reference for prenatal testing and genetic counseling in this population.

Keywords:

• β-Thalassemia
• Mutation
• Kurdish
• Iran

Notes

*The first two authors contributed equally to this study.