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- Title
beta-Thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces.
- Authors
Haghi, Mehdi; Khorshidi, Shohre; Hosseinpour Feizi, Mohammad Ali; Pouladi, Nasser; Hosseinpour Feizi, Abbas A
- Abstract
The aim of this study was to investigate the prevalence and spectrum of beta-thalassemia (beta-thal) mutations in the population of Sunni Muslim Kurds in western Iran and to set up a prenatal diagnostic laboratory. Sixty unrelated Kurdish beta-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 beta-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.
- Publication
Hemoglobin, 2009, Vol 33, Issue 2, p109
- ISSN
1532-432X
- Publication type
Journal Article
- DOI
10.1080/03630260902862020