beta-Thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces.
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.
Haghi
Mehdi
M
Department of Biology-Genetics, Science Faculty, Tabriz University, Tabriz, Iran.
Khorshidi
Shohre
S
Hosseinpour Feizi
Mohammad Ali
MA
Pouladi
Nasser
N
Hosseinpour Feizi
Abbas A
AA
D001382:Azerbaijan / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007492:Iran / Q000453:epidemiology; D007493:Iraq / Q000453:epidemiology; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000208:ethnology* / Q000235:genetics*
D055544:beta-Globins