In Israel, as in several countries of the Mediterranean basin, beta-thalassemia is frequent among Arabs, and many different mutations in the β globin gene have been identified. In a single Arab village, three different thalassemia mutations, as well as the sickle-cell mutation, were characterized. Using genealogical data as well as the results of screening in the village population, we were able to demonstrate/speculate on how mutations were introduced into the village and how they later expanded. The sickle-cell mutation became particularly prevalent in the village as the result of a founder effect due to a preference for consanguineous marriages.
ASJC Scopus subject areas
- Ecology, Evolution, Behavior and Systematics