الفهرس 
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Abstract
p-thalassemia, one of the most severe form of thalassemia, is caused by defective globin production that causes anemia and also it results in iron overload, which is the major cause of J3-thalassemia mortality worldwide. Hereditary hemochromatosis is a disorder of iron metabolism characterized by increased iron intake and progressive storage and is related to mutations in the HFE gene. Interactions between thalassemia and hemochromatosis may further increase iron overload. Therefore the present study aimed to characterise the genotype and allele frequency of the missense mutations C282Y, H63D and S65C of HFE gene among -thalassemic patients in Egypt. Blood samples of sixty-two known J3-thalassemic patients who grouped according to gender and age are used for clinical and genetic study. PCR-AFLP technique is performed using restriction digestion of the amplicons by Rsa! (C282Y), Bel! (H63D) and HinjI (S65C) for genotyping and allele frequency determination. The allelic frequency for HFE gene mutations was 0.031 for C282Y, H63D and S65C in male thalassemic patients, while the only mutation that found in females was in H63D with allelic frequency of 0.067. Mutant cases are associated with a high ferretin saturation, low hemoglobin level and red blood cell counts. The three mutations of H63D were homozygous while mutant alleles for C282Y and S65C were heterozygous. Therefore, we concluded that allelic frequencies of mutations in HFE gene were 1.6%, 4.8% and 1.6% for C282Y, H63D and S65C, respectively in J3-thalassemic patients that associated with a high risk of iron overload.