Chinese in west Malaysia: the geography of beta thalassaemia mutations.

E. George-Kodiseri, K. G. Yang, Ferdane Kutlar, J. B. Wilson, Abdullah Kutlar, T. A. Stoming, J. M. Gonzales-Redondo, T. H. Huisman

Research output: Contribution to journalArticle

9 Scopus citations

Abstract

The overseas Chinese in West Malaysia are almost exclusively from the south-eastern provinces of China-Kwangtung, Fukien, and Kwangsi. To institute a comprehensive thalassaemia control programme for this region we have characterised the beta thalassaemia mutations in 16 Chinese patients from West Malaysia: 4 beta thalassaemia mutations were seen: a) an A----G substitution in the TATA box [-28 base pairs (bp)], an A----T substitution in codon 17 [17 A----T], c) a 4 base pairs - TCTT deletion in codon 41-42 [frameshift mutation (FSC 41-42)], and d) a C----T substitution at the second intervening sequence (IVS 11) position 654. Similar mutations have been described in patients from the south-eastern provinces of China. The delineation of the specific mutations present will enable effective prenatal diagnosis for beta thalassaemia of ethnic Chinese in West Malaysia to be instituted.

Original languageEnglish (US)
Pages (from-to)374-377
Number of pages4
JournalSingapore Medical Journal
Volume31
Issue number4
StatePublished - Jan 1 1990

ASJC Scopus subject areas

  • Medicine(all)

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