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

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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Hb G-MAKASSAR [β6(A3)Glu→Ala; CODON 6 (G A G→G C G)]: MOLECULAR CHARACTERIZATION, CLINICAL, AND HEMATOLOGICAL EFFECTS

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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

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