Origin and expansion of four different beta globin mutations in a single Arab village

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. Am. J. Hum. Biol. 17:659–661, 2005. © 2005 Wiley‐Liss, Inc.