Prevalence of Xmnl Gγ polymorphism in Egyptian patients with β-thalassemia major

Abstract

BACKGROUND AND OBJECTIVESβ-thalassemia results from a deficiency of β-globin chains leading to an excess in α globin chains resulting in hypochromic microcytic red cells, ineffective erythropoiesis and hemolytic anemia. It is a result of a decline of HbF synthesis during the first year of life. F-cell levels are influenced by a sequence variant (C → T) at position −158 upstream of the -globin gene, so the frequency of the Xmnl Gγ polymorphism in Egyptian patients with β-thalassemia major needed evaluation to decide on the value of HbF augmentation drugs in treating Egyptian β-thalessemia.DESIGN AND SETTINGA cross-sectional study including 30 β-thalassemia major patients diagnosed and attending the Pediatric Hematology Unit, Children’s University Hospital, Ain Shams University, Cairo, Egypt, in the period from October 2008 to October 2009.PATIENTS AND METHODSThe 17 males and 13 females underwent a medical history and physical examination. Tests included a complete blood count, hemoglobin electrophoresis, serum ferritin, and detection of Xmnl Gγ polymorphism by PCR.RESULTSThe mean (SD) age was [2]10.2 (6.9) years. The most frequent genotype observed was homozygosity for the absence of the site XmnI (−/−) in 96% of cases. Heterozygosity (+/−) genotype was detected in 4% of cases, while homozygosity for the site XmnI (+/+) genotype was absent. Genotype was not related to age at first transfusion, fetal hemoglobin level or transfusion frequency.CONCLUSIONDespite the small sample size, the study demonstrated that Egyptian β-thalessemia patients have low frequency of positivity for the XmnI polymorphism whether in heterozygous (+/−) or homozygous (+/+) state.