Hb G-Makassar [beta 6(A3)Glu -> Ala; codon 6 (GAG -> GCG)]: Molecular characterization, clinical, and hematological effects

We report a Thai family in which five members are Hb G-Makassar heterozygotes and one member is, in addition, a heterozygote for beta(0)-thalassemia (IVS-I-1, G --> T). We confirm that the previously presumed mutation at codon 6 of the beta-globin gene is GAG --> GCG. Hb G-Makassar heterozygotes are asymptomatic and hematologically normal. The Hb G-Makassar/beta(0)-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.