Molecular Biology Reports

, Volume 37, Issue 1, pp 159–164

The Xmn1 polymorphic site 5′ to the Gγ gene and its correlation to the Gγ:Aγ ratio, age at first blood transfusion and clinical features in β-Thalassemia patients from Western Iran

  • Hooshang Nemati
  • Zohreh Rahimi
  • Gholamreza Bahrami


β-Thalassemia is the most common single gene disorder in Iran and more than 25,000 affected individuals have been reported. It has been reported that in patients with β-thalassemia in the presence of Xmn1 polymorphic site the level of Hb F and Gγ: Aγ ratio is increased. The prevalence of Xmn1 polymorphic site, Gγ: Aγ ratio and Hb F in 197 β-thalassemia major patients from the Kermanshah Province of Iran were studied. The Xmn1 polymorphic site was determined by PCR-RFLP procedure. The levels of Gγ and Aγ chains were detected by HPLC. The percent of Hb F was determined using electrophoresis method. In β-thalassemia major patients the frequency of presence Xmn1 was 0.39. The mean of Gγ: Aγ ratio was found to be 2.5. In the present study it was found that in the presence of Xmn1 polymorphic site Gγ percent and Gγ: Aγ ratio were significantly increased (P = 0.01) and the clinical features such as splenomegaly and bone marrow expansion were significantly improved (P = 0.01). We found that in the presence of Xmn1 polymorphic site on both chromosomes (+/+) the level of Hb F tended to be increased compared to the absence of Xmn1 (−/−). The present investigation has studied the frequency of Xmn1 polymorphic site in β-thalassemia major patients from Western Iran and has revealed that the presence of this polymorphic site caused a positive influence on Hb F production and the Gγ percent which could improve the clinical symptoms of β-thalassemia patients.


Thalassemia Gγ chain percent Xmn1 polymorphic site Splenectomy Facial bone deformity Age at first blood transfusion 


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • Hooshang Nemati
    • 1
  • Zohreh Rahimi
    • 2
    • 3
  • Gholamreza Bahrami
    • 4
  1. 1.Department of Biochemistry, Pharmacy SchoolKermanshah University of Medical SciencesKermanshahIran
  2. 2.Medical Biology Research Center, Medical SchoolKermanshah University of Medical SciencesKermanshahIran
  3. 3.Department of Biochemistry, Medical SchoolKermanshah University of Medical SciencesKermanshahIran
  4. 4.Department of Pharmacology, Pharmacy SchoolKermanshah University of Medical SciencesKermanshahIran

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