Document Detail


Hb G-Makassar [beta6(A3)Glu-->Ala; codon 6 (GAG-->GCG)]: molecular characterization, clinical, and hematological effects.
MedLine Citation:
PMID:  12403489     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report a Thai family in which five members are Hb G-Makassar heterozygotes and one member is, in addition, a heterozygote for beta0-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/beta0-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.
Authors:
Vip Viprakasit; Aranya Wiriyasateinkul; Benjamas Sattayasevana; Katie L Miles; Vichai Laosombat
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Hemoglobin     Volume:  26     ISSN:  0363-0269     ISO Abbreviation:  Hemoglobin     Publication Date:  2002 Aug 
Date Detail:
Created Date:  2002-10-29     Completed Date:  2003-07-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7705865     Medline TA:  Hemoglobin     Country:  United States    
Other Details:
Languages:  eng     Pagination:  245-53     Citation Subset:  IM    
Affiliation:
Medical Research Council Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK. viprakas@molbiol.ox.ac.uk
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Child, Preschool
Family Health
Female
Globins / genetics
Hemoglobinopathies / diagnosis*,  genetics
Hemoglobins, Abnormal / genetics*
Heterozygote
Humans
Male
Middle Aged
Phenotype
Point Mutation*
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Thailand
beta-Thalassemia / genetics
Chemical
Reg. No./Substance:
0/Hemoglobins, Abnormal; 0/hemoglobin G-Makassar; 9004-22-2/Globins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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