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

D. Filon, V. Oron, S. Krichevski, A. Shaag, Y. Shaag, T. C. Warren, A. Goldfarb, Y. Shneor, A. Koren, M. Aker, A. Abramov, E. A. Rachmilewitz, D. Rund, H. H. Kazazian, A. Oppenheim

Research output: Contribution to journalArticlepeer-review


We characterized nearly 500 β-thalassemia genes from the Israeli population representing a variety of ethnic subgroups. We found 28 different mutations in the β-globin gene, including three mutations (β(S), β(C), and β(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 β-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 β-globin mutations can be largely explained by migration events that occurred in the past millennium.

Original languageEnglish (US)
Pages (from-to)836-843
Number of pages8
JournalAmerican journal of human genetics
Issue number5
StatePublished - Jan 1 1994
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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