A newly discovered βdeg;thalassemia (IVS-11-850, g→a) mutation in a north european family

M. A. Çudie;rük, S. C. Howard, A. Kutlar, T. H.J. Huisman

Research output: Contribution to journalArticle

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Abstract

βThalassemia (thal) is one of the most common genetic disorders in the world and is caused by specific mutations within the βglobin gene and, less frequently, by the deletion of (part of) the β gene. A recently published list of alleles mentions over 160 point mutations and frameshifts, and more than 10 large deletions (1). βThal is common among Mediterranean populations, the Middle East, India, and the Far Eastern countries, but is rarely seen in North Europeans except for alleles which originated from the listed countries (2). Only a few, rare, mutations have been found in British persons; here we provide a short description of an American family of English-Scottish descent with six members having a βthal heterozygosity.

Original languageEnglish (US)
Pages (from-to)207-211
Number of pages5
JournalHemoglobin
Volume19
Issue number3-4
DOIs
Publication statusPublished - Jan 1 1995

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ASJC Scopus subject areas

  • Hematology
  • Clinical Biochemistry
  • Genetics(clinical)
  • Biochemistry, medical

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