title: 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.affiliation: Department of Biochemistry, Pharmacy School, Kermanshah University of Medical Sciences, Kermanshah, Iran. hnemati_1375@yahoo.com
authors.forename: Hooshang
authors.initials: H
authors.lastname: Nemati
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Rahimi
authors.forename: Gholamreza
authors.initials: G
authors.lastname: Bahrami
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D000704:Analysis of Variance; D001803:Blood Transfusion; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism*; D004587:Electrophoresis, Agar Gel; D005260:Female; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D011110:Polymorphism, Genetic; D055815:Young Adult; D017086:beta-Thalassemia / Q000235:genetics* / Q000473:pathology*; D055545:gamma-Globins / Q000235:genetics*
chemical_list: D055545:gamma-Globins; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific