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A single, large deletion accounts for all the β‐globin gene mutations in twenty families from Sabah (North Borneo), Malaysia
Author(s) -
Thong M.K.,
Rudzki Z.,
Hall J.,
Tan J.A.M.A.,
Chan L.L.,
Yap S.F.
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:5<413::aid-humu14>3.0.co;2-h
Subject(s) - genetics , biology , thalassemia , breakpoint , hum , phenotype , gene , population , mutation , compound heterozygosity , chromosomal translocation , medicine , environmental health , art , performance art , art history
β‐thalassemia major is one of the commonest genetic disorders in South‐East Asia. The spectrum of β‐thalassemia mutations in the various ethnic sub‐populations on the island of Borneo is unknown. We studied 20 Dusun children from the East Malaysian state of Sabah (North Borneo) with a severe β‐thalassemia major phenotype, using a combination of Southern analysis, polymerase chain reaction analysis and direct sequencing. We found the children to be homozygous for a large deletion, which has a 5′ breakpoint at position ‐4279 from the cap site of the β‐globin gene (HBB) with the 3′ breakpoint located in a L1 family of repetitive sequences at an unknown distance from the β‐globin gene. This was similar to a recent finding of a large deletion causing β‐thalassemia first described in unrelated β‐thalassemia heterozygotes of Filipino descent. This report describes the first 20 families with homozygosity of the deletion causing a severe phenotype. It provides the first information on the molecular epidemiology of β‐thalassemia in Sabah. This finding has implications for the population genetics and preventative strategies for β‐thalassemia major for nearly 300 million individuals in South‐East Asia. Hum Mutat 13:413–413, 1999. © 1999 Wiley‐Liss, Inc.