title: Role of XmnIgG Polymorphism in Hydroxyurea Treatment and Fetal Hemoglobin Level at Isfahanian Intermediate β-Thalassemia Patients.
abstract: BACKGROUND
  β-thalassemia is the most common monogenic disorder in human. The (C-->T) polymorphism at -158 upstream region of the γG-globin gene and pharmacological factors such as hydroxyurea have been reported to influence γ-globin gene expression and the severity of clinical symptoms of β-thalassemia.
  
  
  METHODS
  In the present study, 51 β-thalassemia intermediate patients were studied. Xmn1γG polymorphism genotype was determined using Tetra-Primer ARMS-PCR technique. Hemoglobin (Hb) and fetal hemoglobin (HbF) levels were determined by gel electrophoresis.
  
  
  RESULTS
  Of 51 patients, 35 (68.6%) patients were heterozygous (CT) and 16 (31.4%) patients were homozygous (CC). Of 30 patients under treatment by hydroxyurea, 20 (66.7%) patients were heterozygous (CT) and 10 (33.3%) patients were homozygous (CC). Our results demonstrated that in the heterozygous (CT) genotype, the Hb (9.58 ± 1.25 gm/dl) and HbF (89.30 ± 21.87) levels were significantly higher in comparison with homozygous (CC) genotype (7.94 ± 1.34 gm/dl and 70.32 ± 40.56, respectively). Furthermore, we observed that after drug usage, the Hb and HbF levels in patients with heterozygous (CT) genotype (0.7 ± 1.26 gm/dl and 5.95 ± 14.8, respectively) raised more in comparison with homozygous (CC) genotype (0.26 ± 1.43 gm/dl and 0.8 ± 1.31, respectively).
  
  
  CONCLUSIONS
  Hb and HbF levels in the patients carrying T allele are increased significantly, and they also response to hydroxyurea treatment.
authors.affiliation: Genetic Division, Dept. of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran.
authors.forename: Majid
authors.initials: M
authors.lastname: Motovali-Bashi
authors.affiliation: Genetic Division, Dept. of Biology, Faculty of Sciences, University of Isfahan, Isfahan, Iran.
authors.forename: Tayyebeh
authors.initials: T
authors.lastname: Ghasemi
mesh_terms: D000293:Adolescent; D000328:Adult; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D005260:Female; D005319:Fetal Hemoglobin / Q000378:metabolism*; D006801:Humans; D006918:Hydroxyurea / Q000627:therapeutic use*; D007074:Immunoglobulin G / Q000235:genetics*; D007492:Iran; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D055815:Young Adult; D017086:beta-Thalassemia / Q000378:metabolism*
chemical_list: D007074:Immunoglobulin G; D005319:Fetal Hemoglobin; C028649:endodeoxyribonuclease XmnI; D015252:Deoxyribonucleases, Type II Site-Specific; D006918:Hydroxyurea
keywords: Fetal hemoglobin; Hydroxyurea; Intermediate β-thalassemia