Hb G-Makassar [β6(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 β0-thalassemia (IVS-I-1, G → T). We confirm that the previously presumed mutation at codon 6 of the β-globin gene is GAG → GCG. Hb G-Makassar heterozygotes are asymptomati...
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Main Authors: | , , , , |
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Format: | Article |
Published: |
2018
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Online Access: | https://repository.li.mahidol.ac.th/handle/123456789/20034 |
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Institution: | Mahidol University |