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Abstract -thalassemia is one of the genetic diseases which can be broadly defined as a syndrome of inherited hemoglobin disorders characterized by a quantitative deficiency of functional -globin chains Beta thalassemia is caused by more than 200 mutations that affect different levels of the beta-globin gene expression by a variety of mechanisms. These mutations are ethnic-group specific; thus, only 4-6 ccount for the majority of beta-thalassemia alleles in each population It has been estimated that about 3% of the world population are heterozygous for β-thalassemia and more than 300.000 children in the world are born with severe β-globin gene disorder each year The clinical severity of thalassemia major makes it a priority genetic disease for prevention programs involving population screening of heterozygotes and optional prenatal diagnosis for carrier couples. |