Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.

@article{Rund1991EvolutionOA,
  title={Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan.},
  author={Deborah G Rund and Tova Cohen and Dvora Filon and Carol E. Dowling and Thomas C. Warren and Imrich Bar{\'a}k and Eliezer A. Rachmilewitz and Haig H. Kazazian and Ariella Oppenheim},
  journal={Proceedings of the National Academy of Sciences of the United States of America},
  year={1991},
  volume={88 1},
  pages={310-4}
}
beta-Thalassemia is a hereditary disease caused by any of 90 different point mutations in the beta-globin gene. Specific populations generally carry a small number of mutations, the most common of which are those that are widely distributed regionally. The present study constitutes an extensive molecular characterization of this disease in a small, highly inbred ethnic group with a high incidence of beta-thalassemia--the Jews of Kurdistan. An unusual mutational diversity was observed. In 42… CONTINUE READING