title: Chinese in west Malaysia: the geography of beta thalassaemia mutations.
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.
authors: Department of Pathology, National University of Malaysia, Kuala Lumpur.
authors: E
authors: E
authors: George-Kodiseri
authors: K G
authors: KG
authors: Yang
authors: F
authors: F
authors: Kutlar
authors: J B
authors: JB
authors: Wilson
authors: A
authors: A
authors: Kutlar
authors: T A
authors: TA
authors: Stoming
authors: J M
authors: JM
authors: Gonzales-Redondo
authors: T H
authors: TH
authors: Huisman
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002681:China / Q000208:ethnology; D006239:Haplotypes; D006446:Hemoglobin E / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007125:Immunogenetics; D007223:Infant; D008296:Malaysia; D009154:Mutation; D013789:Thalassemia / Q000208:ethnology / Q000235:genetics*
chemical_list: D006446:Hemoglobin E