Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews

beta -Thalassemia is an autosomal recessive disease characterized by severe anemia beginning in infancy, which is caused by diminished or absent beta -globin chain synthesis. The high prevalence of thalassemia in malaria infested regions led Haldane to propose that heterozygotes for this lethal disease have a selective advantage in a malarial environment. Many parts of Israel have been infested by malaria until recently, providing an explanation for the high prevalence of beta -thalassemia in the local Arab population. Likewise, Jews who immigrated from Mediterranean or Middle Eastern countries have a high incidence of the disease. Rare beta -thalassemia carriers have also been identified among Ashkenazi Jews. We report that beta -thalassemia among Ashkenazi Jews is generally characterized by sporadic alleles, including a novel mutation.