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1: Am J Hematol. 2001 Jul;67(3):189-93.Links

Molecular characterization of hemoglobin C in Thailand.

Department of Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.

We describe hematologic and DNA characterization of 12 hemoglobin C heterozygotes and three compound heterozygotes for hemoglobin C and hemoglobin E found in Thailand. Amplification and DNA analysis of genomic DNA by the polymerase chain reaction procedure permitted the identification of the beta(C) mutation at codon 6 of beta-globin gene (beta 6; GAG-AAG). beta-Globin gene haplotype analysis demonstrated that all beta(C) globin genes detected in these Thai individuals were associated with the haplotype (+ - - - - - +), indicating a non-African origin of this abnormal hemoglobin in Thailand. On routine hemoglobin typing, hemoglobin C is usually mistakenly identified as hemoglobin E because of theirs similar mobilities on cellulose acetate electrophoresis. The simple DNA assay for hemoglobin C based on an allele-specific polymerase chain reaction for accurate diagnosis of hemoglobin C was therefore developed. Copyright 2001 Wiley-Liss, Inc.

PMID: 11391717 [PubMed - indexed for MEDLINE]