title: Polymorphisms associated with sickle cell disease in Southern Iran.
abstract: Sickle cell disease (SCD) is an inherited autosomal recessive disorder. We aimed to describe the spectrum of haplotyes 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.
authors.affiliation: Hematology Research Centre, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: S
authors.initials: S
authors.lastname: Haghpanah
authors.forename: S
authors.initials: S
authors.lastname: Nasirabadi
authors.forename: M
authors.initials: M
authors.lastname: Kianmehr
authors.forename: A
authors.initials: A
authors.lastname: Afrasiabi
authors.forename: M
authors.initials: M
authors.lastname: Karimi
mesh_terms: D000293:Adolescent; D000328:Adult; D000755:Anemia, Sickle Cell / Q000235:genetics*; D001803:Blood Transfusion; D002648:Child; D002675:Child, Preschool; D005260:Female; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D007492:Iran; D008297:Male; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D055544:beta-Globins / Q000235:genetics*
chemical_list: D055544:beta-Globins