?-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 ?-thalassemia (?-thal) mutations in the population of Sunni Muslim Kurds in western Iran and to set up a prenatal diagnostic laboratory. Sixty unrelated Kurdish ?-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 ?-thal mutations, and LVS-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. é Informa Healthcare USA, Inc.