期刊
CLINICA CHIMICA ACTA
卷 343, 期 1-2, 页码 129-134出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.cccn.2003.12.029
关键词
multiplex allele-specific PCR; Hb S; Hb D-Punjab; Hb Tak
Background: Apart from hemoglobin (Hb) E, Hb D-Punjab [beta121 (GH4)Glu-Gln] and Hb Tak [beta147Term-Thr] are the two most common beta-chain variants among the Asian population. These two Hb variants have similar alkaline electrophoretic mobilities and HPLC profiles as those of the Hb S [beta6(A3)Glu-Val]. Differential diagnosis of these clinically relevant hemoglobinopathies is therefore problematic. Direct detection of the beta-globin gene mutations would be another diagnostic alternative. Methods: A simultaneous DNA diagnosis of the three Hb variants was developed based on the multiplex allele-specific polymerase chain reaction (PCR) approach. The method was validated on 10 carriers of Hb D-Punjab, 5 carriers of Hb Tak, 2 carriers of Hb S and 50 normal individuals of Thai origin. Results: The three abnormal Hbs could be correctly diagnosed with the simultaneous PCR approach, and a complete concordance with results using other established methods was obtained. Conclusions: The multiplex allele-specific PCR approach developed should prove useful in complementing routine Hb analysis for differential diagnosis of these three common Hb variants and should facilitate a program of hemoglobinopathy screening in the region. (C) 2004 Elsevier B.V. All rights reserved.
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