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Abstract
The present study was carried out on a group of Egyptians patients with β-thalassemia major. This group include 30 patients (17) males and (13) females. Their age ranged between (6) months and (29) years with a mean age of (10.15) years (6.9).
All patients were subjected to full medical history, thorough clinical examination and the following laboratory investigations were done: Complete blood count, Hb electrophoresis, serum ferritin, liver profile, serum creatinine and detection of XmnI gene polymorphism by polymerase chain reaction (PCR).
The result of the present study showed that the most frequent genotype observed was Homozygosity for the absence of the XmnI site (-/-)in 96% of cases, Heterozygosity (+/-) genotype was detected in 4% of cases, while Homozygosity for the XmnI site (+/+) genotype was absent.
The case with XmnI-Gγ-/+ showed lower (age at first blood transfusion and AST) and higher (HbF, MCV and TLC) than cases with XmnI-Gγ-/-, but the difference did not reach a significant level due to small number of patients with XmnI-Gγ-/+ gene polymorphism.
This study demonstrate that the most common genotype in Egyptian β-thalassemia major patients is (-/-) type so the drugs used in fetal hemoglobin augmentation can’t consider as a major line of treatment for them.