泰国患者中的Hb Tak和Hb Q-泰国型是通过高效液相色谱法揭示的S窗血红蛋白变异体。

Hb Tak and Hb Q-Thailand in Thai patients are S-window hemoglobin variants revealed by high performance liquid chromatography.

作者信息

Jindadamrongwech Sumalee, Tungbuppha Noppawan, Chuncharunee Suporn, Butthep Punnee

机构信息

Blood Disease Diagnostic Center, Hematology Division, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Hemoglobin. 2010 Jan;34(2):161-4. doi: 10.3109/03630261003679631.

DOI:10.3109/03630261003679631

PMID:20353352

Abstract

The S-window hemoglobin (Hb) variants revealed by high performance liquid chromatography (HPLC) were studied in 12 Thai individuals. The variants were identified, using DNA sequencing and multiplex amplification refractory mutation system-polymerase chain reaction (ARMS-PCR), to be six cases of Hb Tak [beta147 (+AC)], and six cases of Hb Q-Thailand [alpha74(EF3)Asp-->His], respectively. By using the Capillarys 2-capillary zone electrophoresis (CE), Hb Tak and Hb Q-Thailand co-migrated with Hb F in zone 7. This might pose a problem as the high Hb F conditions suggest a differential diagnosis. The S-window Hb variants are mostly Hb Tak and Hb Q-Thailand in the Thai population rather than Hb S [beta6(A3)Glu-->Val]. The definite identification of Hb variants detected by HPLC or capillary electrophoresis (CE) requires DNA analysis.

摘要

对12名泰国个体中通过高效液相色谱法（HPLC）检测出的S窗血红蛋白（Hb）变异体进行了研究。利用DNA测序和多重扩增不应性突变系统-聚合酶链反应（ARMS-PCR）鉴定出这些变异体分别为6例Hb Tak [β147（+AC）]和6例Hb Q-泰国 [α74（EF3）天冬氨酸→组氨酸]。通过使用Capillarys 2-毛细管区带电泳（CE），Hb Tak和Hb Q-泰国在第7区与Hb F共迁移。由于高Hb F情况提示鉴别诊断，这可能会带来问题。在泰国人群中，S窗Hb变异体大多是Hb Tak和Hb Q-泰国，而非Hb S [β6（A3）谷氨酸→缬氨酸]。通过HPLC或毛细管电泳（CE）检测到的Hb变异体的明确鉴定需要进行DNA分析。