Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

• Published in: American journal of human genetics Vol. 54; no. 5; pp. 836 - 843
• Main Authors: FILON, D, ORON, V, ABRAMOV, A, RACHMILEWITZ, E. A, RUND, D, KAZAZIAN, H. H, OPPENHEIM, A, KRICHEVSKI, S, SHAAG, A, SHAAG, Y, WARREN, T. C, GOLDFARB, A, SHNEOR, Y, KOREN, A, AKER, M
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 01.05.1994
• Subjects: Alleles; Anemias. Hemoglobinopathies; Base Sequence; beta chain; beta-Thalassemia - genetics; Biological and medical sciences; Diseases of red blood cells; Ethnic Groups - genetics; Europe - ethnology; Frameshift Mutation; Globins - genetics; Hematologic and hematopoietic diseases; hemoglobin; Hemoglobinopathies - genetics; Humans; India - ethnology; Islam; Israel; Jews; man; Medical sciences; Middle East - ethnology; Morocco - ethnology; Mutation; Original; Point Mutation; thalassemia; Asia; Israel; Middle East; Morocco; Europe; India; Human; Origin; Hemoglobinopathy; Hemopathy; Epidemiology; Ethnic group; Genetic disease; Prenatal; Hemolytic anemia; Geographic distribution; β-Thalassemia; Diagnosis; Mutation
• ISSN: 0002-9297; 1537-6605

We characterized nearly 500 beta-thalassemia genes from the Israeli population representing a variety of ethnic subgroups. We found 28 different mutations in the beta-globin gene, including three mutations (beta S, beta C, and beta O-Arab) causing hemoglobinopathies. Marked genetic heterogeneity was observed in both the Arab (20 mutations) and Jewish (17 mutations) populations. On the other hand, two ethnic isolates--Druze and Samaritans--had a single mutation each. Fifteen of the beta-thalassemia alleles are Mediterranean in type, 5 originated in Kurdistan, 2 are of Indian origin, and 2 sporadic alleles came from Europe. Only one mutant allele--nonsense codon 37--appears to be indigenous to Israel. While human habitation in Israel dates back to early prehistory, the present-day spectrum of beta-globin mutations can be largely explained by migration events that occurred in the past millennium.