Thonglairoam V, Winichagoon P, Fucharoen S, Tanphaichitr V S, Pung-amritt P, Embury S H, Wasi P
Institute of Sciences and Technology for Development, Bangkok, Thailand.
Am J Hematol. 1991 Dec;38(4):277-80. doi: 10.1002/ajh.2830380405.
Hemoglobin Constant Spring (Hb CS) is a hemoglobin variant with an elongated alpha-globin chain secondary to a chain termination mutation. The diagnosis of HbCS by electrophoresis is difficult because it is present in very low amounts in the red cells of heterozygotes. Selective enzymatic amplification of the alpha 2-globin gene and allele-specific hybridization for Hb CS gene provided accurate diagnosis of Hb Constant Spring. We have used this approach to detect the alpha cs mutation in the cord blood that contained all four alpha-globin genes but had Hb Bart on electrophoresis. The alpha cs mutation was found in six subjects whose Hb Bart levels were 3.0, 3.2, 3.7, 4.0, 4.9, and 9.8%. The latter also had -alpha mutation on the other chromosome, giving rise to the genotype alpha cs alpha/-alpha, which produced high Hb Bart. The gene frequency for alpha cs in the Thai calculated from a total of 406 cord blood studied in Bangkok was found to be approximately 0.008.
血红蛋白恒春（Hb CS）是一种血红蛋白变异体，由于链终止突变导致α-珠蛋白链延长。通过电泳诊断HbCS很困难，因为杂合子红细胞中其含量非常低。α2-珠蛋白基因的选择性酶促扩增和针对Hb CS基因的等位基因特异性杂交为血红蛋白恒春提供了准确诊断。我们采用这种方法检测了脐血中的αcs突变，该脐血包含所有四个α-珠蛋白基因，但电泳显示有Hb Bart。在六名受试者中发现了αcs突变，其Hb Bart水平分别为3.0%、3.2%、3.7%、4.0%、4.9%和9.8%。后者在另一条染色体上也有-α突变，产生了αcsα/-α基因型，导致Hb Bart水平升高。根据在曼谷研究的总共406份脐血计算，泰国人群中αcs的基因频率约为0.008。
