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Polymorphisms associated with sickle cell disease in Southern Iran

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Abstract

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.

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Authors and Affiliations

  1. Hematology Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran

    S. Haghpanah, Sh. Nasirabadi, M. Kianmehr, A. Afrasiabi & M. Karimi

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  1. S. Haghpanah
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  2. Sh. Nasirabadi
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  3. M. Kianmehr
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  4. A. Afrasiabi
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  5. M. Karimi
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Correspondence to M. Karimi.

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Haghpanah, S., Nasirabadi, S., Kianmehr, M. et al. Polymorphisms associated with sickle cell disease in Southern Iran. Russ J Genet 48, 755–757 (2012). https://doi.org/10.1134/S1022795412050092

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  • DOI: https://doi.org/10.1134/S1022795412050092

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