beta-Thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces

Hemoglobin. 2009;33(2):109-14. doi: 10.1080/03630260902862020.

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.

MeSH terms

  • Azerbaijan / epidemiology
  • DNA Mutational Analysis
  • Female
  • Humans
  • Iran / epidemiology
  • Iraq / epidemiology
  • Male
  • Pregnancy
  • Prenatal Diagnosis
  • beta-Globins / genetics*
  • beta-Thalassemia / diagnosis
  • beta-Thalassemia / ethnology*
  • beta-Thalassemia / genetics*

Substances

  • beta-Globins