Genetic Modifying Factors in β-Thalassemia

摘要: The beta-thalassemia is probably the most extensively studied genetic disease. Essentially any molecular defect that has been first described in association with globin genes later implicated as a determinant of newly discovered genes. Accordingly, thalassemias have always represented model disease, especially relation to development programs for population screening, counseling and prenatal diagnosis. Here we will review present knowledge on genetics thalassemia relevant modifying factors. Major categories carrier state, genotypes, clinical phenotypes correlation between genotype phenotype be discussed.