Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: Molecular characterization, clinical, and hematological effects

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: Vip Viprakasit, Aranya Wiriyasateinkul, Benjamas Sattayasevana, Katie L. Miles, Vichai Laosombat
Other Authors: Mahidol University
Format: Article
Published: 2018
Subjects:
Biochemistry, Genetics and Molecular Biology
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/20034
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spelling th-mahidol.200342018-07-24T10:04:55Z Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: Molecular characterization, clinical, and hematological effects Vip Viprakasit Aranya Wiriyasateinkul Benjamas Sattayasevana Katie L. Miles Vichai Laosombat Mahidol University Prince of Songkla University John Radcliffe Hospital Biochemistry, Genetics and Molecular Biology Medicine 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 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. 2018-07-24T02:56:13Z 2018-07-24T02:56:13Z 2002-10-30 Article Hemoglobin. Vol.26, No.3 (2002), 245-253 10.1081/HEM-120015028 03630269 2-s2.0-0036401279 https://repository.li.mahidol.ac.th/handle/123456789/20034 Mahidol University SCOPUS https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=0036401279&origin=inward
institution Mahidol University
building Mahidol University Library
continent Asia
country Thailand
Thailand
content_provider Mahidol University Library
collection Mahidol University Institutional Repository
topic Biochemistry, Genetics and Molecular Biology
Medicine
spellingShingle Biochemistry, Genetics and Molecular Biology
Medicine
Vip Viprakasit
Aranya Wiriyasateinkul
Benjamas Sattayasevana
Katie L. Miles
Vichai Laosombat
Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: Molecular characterization, clinical, and hematological effects
description 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 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.
author2 Mahidol University
author_facet Mahidol University
Vip Viprakasit
Aranya Wiriyasateinkul
Benjamas Sattayasevana
Katie L. Miles
Vichai Laosombat
format Article
author Vip Viprakasit
Aranya Wiriyasateinkul
Benjamas Sattayasevana
Katie L. Miles
Vichai Laosombat
author_sort Vip Viprakasit
title Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: Molecular characterization, clinical, and hematological effects
title_short Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: Molecular characterization, clinical, and hematological effects
title_full Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: Molecular characterization, clinical, and hematological effects
title_fullStr Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: Molecular characterization, clinical, and hematological effects
title_full_unstemmed Hb G-Makassar [β6(A3)Glu→Ala; codon 6 (GAG→GCG)]: Molecular characterization, clinical, and hematological effects
title_sort hb g-makassar [β6(a3)glu→ala; codon 6 (gag→gcg)]: molecular characterization, clinical, and hematological effects
publishDate 2018
url https://repository.li.mahidol.ac.th/handle/123456789/20034
_version_ 1763495626076585984

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