Polymorphisms associated with sickle cell disease in Southern Iran

Polymorphisms associated with sickle cell disease in Southern Iran 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Russian Journal of Genetics Springer Journals

Polymorphisms associated with sickle cell disease in Southern Iran

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Publisher
Springer Journals
Copyright
Copyright © 2012 by Pleiades Publishing, Ltd.
Subject
Biomedicine; Animal Genetics and Genomics; Microbial Genetics and Genomics; Human Genetics
ISSN
1022-7954
eISSN
1608-3369
D.O.I.
10.1134/S1022795412050092
Publisher site
See Article on Publisher Site

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.

Journal

Russian Journal of GeneticsSpringer Journals

Published: Jul 14, 2012

References

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