Molecular analysis of beta-thalassemia in Israeli ethnic groups and its application to prenatal diagnosis

D. Rund, D. Filon, T. C. Warren, C. E. Dowling, H. H. Kazazian, E. A. Rachmilewitz, A. Oppenheim

Research output: Contribution to journalArticlepeer-review

Abstract

There are several hundred patients in Israel with β-thalassemia major and intermedia, who belong to a number of distinct ethnic groups. Most are over 10 years of age due to prenatal diagnosis and prevention during the last decade. The frequency of carriers in some ethnic groups is very high. Analyses of the mutations in the β-globin gene have been performed using the polymerase chain reaction (PCR) in conjunction with allele specific oligonucleotide probes and direct sequencing of the PCR products. jDruze and Arabs of the Moslem and Christian communities carry mostly Mediterranean mutations. Jews from North Africa carry the nonsense mutation in codon 39 which is widespread in the western Mediterranean region. The Kurdish Jews community has a high incidence of thalassemia. Since they constitute a highly inbred ethnic group, few mutations were expected. Surprisingly, our studies revealed 13 different mutations, including five which are unique to that ethnic group. These data provide the basis for first trimester prenatal diagnosis at our center. The wide heterogeneity of mutant alleles inm the Israeli population (18 different mutations were discovered to date) stimulates the development of novel strategies for mutational screening.

Original languageEnglish (US)
Pages (from-to)117-124
Number of pages8
JournalHematology Reviews and Communications
Volume6
Issue number1-3
StatePublished - Dec 1 1992
Externally publishedYes

Keywords

  • Ethnic incidence
  • Prenatal screening
  • β-thalassemia

ASJC Scopus subject areas

  • Hematology

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