Chinese in west Malaysia: the geography of beta thalassaemia mutations.
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.
George-Kodiseri
E
E
Department of Pathology, National University of Malaysia, Kuala Lumpur.
Yang
K G
KG
Kutlar
F
F
Wilson
J B
JB
Kutlar
A
A
Stoming
T A
TA
Gonzales-Redondo
J M
JM
Huisman
T H
TH
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*
D006446:Hemoglobin E