Identification of Hb S in Thai patients
Abstract
Two cases of Thai subjects with abnormal hemoglobin (Hb) detected on a cellulose acetate electrophoresis are reported. Both abnormal Hb S migrated between Hb A2 and Hb A at pH 8.6. In the first case, a 23-yr-old Thai male, hematologic analysis gave the following data: Hb 15.0 g/dl, Hct 43 %, MCV 83 fl, MCH 29 pg, MCHC 35 g/dl and RDW 14.2%. The second case, a 26-yr-old Thai male, had Hb 16.3 g/dl, Hct 48 %, MCV 88 fl, MCH 30 pg, MCHC 34 g/dl and RDW 12.5%. Analysis using an automated HPLC Hb Analyzer identified abnormal Hb peaks with 39.2% at the S-window in the former and a 33.1% at the D-window in the latter. Since the mobility of these two abnormal Hbs are similar to that of the Hb Tak, another common abnormal Hb found in Thailand, identification of the βTak mutation using an allele specific PCR was carried out. With this analysis, the βTak mutation was detected in the latter, indicating that he was a Hb Tak heterozygote, but not in the former case. Further DNA sequence analysis of the β-globin gene of the first case identified a GAG (Glu) to GTG(Val) mutation at codon 6 which is characteristic of the Hb S. Screening for Hb S using the Sickling test was also positive in this case. β -globin gene haplotype analysis demonstrated the heterozygosity of the two different haplotypes in this subject. Though the βS associated haplotype could not be clearly defined in this Thai subject with Hb S carrier, it was presumed that the Thai βS gene had the same origin as that of Indians due to similarities at some polymorphic sites. A simple DNA assay based on allele specific PCR for rapid diagnosis of the Hb S is also described.
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