The Xmn1 polymorphic site 5' to the (G)gamma gene and its correlation to the (G)gamma:(A)gamma ratio, age at first blood transfusion and clinical features in beta-thalassemia patients from Western Iran.

Abstract

beta-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 beta-thalassemia in the presence of Xmn1 polymorphic site the level of Hb F and (G)gamma: (A)gamma ratio is increased. The prevalence of Xmn1 polymorphic site, (G)gamma: (A)gamma ratio and Hb F in 197 beta-thalassemia major patients from the Kermanshah Province of Iran were studied. The Xmn1 polymorphic site was determined by PCR-RFLP procedure. The levels of (G)gamma and (A)gamma chains were detected by HPLC. The percent of Hb F was determined using electrophoresis method. In beta-thalassemia major patients the frequency of presence Xmn1 was 0.39. The mean of (G)gamma: (A)gamma ratio was found to be 2.5. In the present study it was found that in the presence of Xmn1 polymorphic site (G)gamma percent and (G)gamma: (A)gamma 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 beta-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 (G)gamma percent which could improve the clinical symptoms of beta-thalassemia patients.

• Authors: Hooshang Nemati, Zohreh Rahimi, Gholamreza Bahrami
• Journal: Molecular biology reports (Mol Biol Rep) Vol. 37 Issue 1 Pg. 159-64 (Jan 2010) ISSN: 1573-4978 [Electronic] Netherlands
• PMID: 19444645 (Publication Type: Journal Article)

Chemical References

• gamma-Globins
• endodeoxyribonuclease XmnI
• Deoxyribonucleases, Type II Site-Specific

Topics

• Adolescent
• Adult
• Age Factors
• Analysis of Variance
• Blood Transfusion
• Chi-Square Distribution
• Child
• Child, Preschool
• Deoxyribonucleases, Type II Site-Specific (metabolism)
• Electrophoresis, Agar Gel
• Female
• Humans
• Infant
• Iran
• Male
• Polymorphism, Genetic
• Young Adult
• beta-Thalassemia (genetics, pathology)
• gamma-Globins (genetics)