الفهرس | Only 14 pages are availabe for public view |
Abstract Clinical severity of β-thalassaemia depends on the types of β-gene mutations involved. It can also be influenced by genetic factors like concomittant α- thalassaemia and increased γ-chain production. Several loci are implicated in higher production of HbF. The Xmn I restriction site at -158 position of the Gγ- gene is associated with increased expression of the Gγ-globin gene and higher production of HbF .This study aims to determine the frequency of the Gγ Xmn I polymorphism in β-thalassaemia patients in Egypt and its corelation to the HBF Level and clinical severity of the disease. we investigated the Xmn I polymorphism in 100 children with β-thalassaemia major using polymerase chain reaction (PCR-RFLP)-restriction fragment length polymorphism. we found that ninety four children had XmnI (-/-)genotype (94%) and six children had XmnI (+/-) genotype. On the other hand the study found that the presence of this polymorphism influences Hb F concentration and ameliorate the clinical severity of the disease . |