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Hemoglobin
international journal for hemoglobin research
Volume 26, 2002 - Issue 3
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Hb G-MAKASSAR [β6(A3)Glu→Ala; CODON 6 (G A G→G C G)]: MOLECULAR CHARACTERIZATION, CLINICAL, AND HEMATOLOGICAL EFFECTS

Vip Viprakasit Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand; Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, 10700, Thailand
,
Aranya Wiriyasateinkul Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkla, 90110, Thailand
,
Benjamas Sattayasevana Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkla, 90110, Thailand
,
Katie L. Miles Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, OX3 9DS, UK
&
Vichai Laosombat Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkla, 90110, Thailand
Pages 245-253 | Received 28 Jan 2002, Accepted 12 Mar 2002, Published online: 07 Jul 2009
 
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Abstract

We report a Thai family in which five members are Hb G-Makassar heterozygotes and one member is, in addition, a heterozygote for β0-thalassemia (IVS-I-1, G→T). We confirm that the previously presumed mutation at codon 6 of the β-globin gene is G A G→G C G. Hb G-Makassar heterozygotes are asymptomatic and hematologically normal. The Hb G-Makassar/β0-thalassemia compound heterozygote has features of thalassemia minor. A simple and rapid polymerase chain reaction-restriction fragment length polymorphism for the detection of Hb G-Makassar is described.

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