Molecular characterization of hemoglobin C in 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.
Sanchaisuriya
K
K
Department of Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Fucharoen
G
G
Sae-ung
N
N
Siriratmanawong
N
N
Surapot
S
S
Fucharoen
S
S
D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D016477:Artifacts; D001797:Blood Protein Electrophoresis; D002648:Child; D002675:Child, Preschool; D003062:Codon / Q000235:genetics; D003124:Colorimetry; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D003951:Diagnostic Errors; D004588:Electrophoresis, Cellulose Acetate; D005260:Female; D005914:Globins / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006444:Hemoglobin C / Q000235:genetics*; D006446:Hemoglobin E / Q000235:genetics*; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D017422:Sequence Analysis, DNA; D013785:Thailand / Q000453:epidemiology
D003062:Codon; D005914:Globins; D006444:Hemoglobin C; D006446:Hemoglobin E