6例异常血红蛋白K(Hb K)的基因型分析

Genotypic Analysis of 6 Cases with Hb K

目的分析6例异常血红蛋白K患者的基因型特征.方法对9 897例常规产检的孕妇行全自动毛细管电泳检测,检出的6例异常血红蛋白K患者进行23种常见地中海贫血基因检测及α、β-珠蛋白基因测序检测.结果 (1)1例杂合突变发生在α2链上,首次报道基因突变型为CD51 (GGC->TGC);(2)3例杂合突变发生在α1链上,基因突变型为Hb Hekinan II(GAG->GAT);(3)2例杂合突变发生在β链上,基因突变型分别为Hb Hope(GGT->GAT)和Hb New York(GTG->GAG).结论同一种异常血红蛋白病存在不同的基因型,且不同基因型临床表现不尽相同.

Objective To analyze the genotypic characteristics of 6 patients with Hb K. Methods 9897 pregnant women with routine prenatal test were detected by automatic capillary electrophoresis. 6 patients with Hb K were detected by 23 common thalassemia gene test and α, β-globin gene sequencing test. Results（1）One heterozygotic mutation occurred on alpha2 chain and the first reporter gene mutation was CD51（GGC-〉TGC）;（2）Three heterozygotic mutation occurred on alpha1 chain and the gene mutation was Hb Hekinan II（GAG-〉GAT）;（3）Two heterozygotic mutations occurred on beta chain and the gene mutations were Hb Hope（GGT-〉GAT）and Hb New York（GTG-〉GAG）.Conclusion The same abnormal hemoglobinopathy may correspond to different genotypes and different genotypes hold different clinical manifestations.