Sickle cell disease (SCD) is an inherited autosomal recessive disorder. We aimed to describe the spectrum of haplotypes of BS-gene and to investigate a relationship with disease phenotype in patients with SCD in Southern Iran. We didn’t find any significant association between BS-globin gene haplotypes and clinical severity of the disease in an Iranian population. The exact mechanism by which the BS-globin gene polymorphism affects clinical presentation is not obvious; however, further detailed studies at the molecular level, with a larger sample size are required to show the mechanisms that influence the clinical presentation of SCD in Iranian population.
Russian Journal of Genetics – Springer Journals
Published: Jul 14, 2012
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