血红蛋白J-Bangkok及其合并地中海贫血的表型分析

目的分析异常血红蛋白J-Bangkok(Hb J-Bangkok)及其合并不同类型地中海贫血(简称地贫)的血液学表型特征。方法收集本院进行毛细管电泳法检测的72397例样本,对筛查出Hb J-Bangkok者采用Sanger测序法进行DNA测序鉴定和红细胞参数分析,以及跨越断裂点聚合酶链反应(Gap-PCR)法和PCR结合反向点杂交法进行地贫基因分型检测。结果共检出31例Hb J-Bangkok,均为杂合子。男性单纯Hb J-Bangkok杂合子的血红蛋白含量(Hb)、平均红细胞体积、平均红细胞血红蛋白量、Hb J-Bangkok和Hb A2分别为(158±13.0)g/L、(90.1±2.3)fL、(31.1±2.5)pg、(51.3±0.7)%和(2.5±0.1)%;女性分别为(124±9.3)g/L、(93.3±4.9)fL、(31.1±1.6)pg、(50.9±1.1)%和(2.6±0.2)%;Hb J-Bangkok合并-α3.7杂合缺失分别为124 g/L、82.1 fL、26.1 pg、49.4%和2.4%;合并--SEA杂合缺失分别为(120±14.1)g/L、(67.7±5.7)fL、(20.5±2.6)pg、(50.1±1.9)%和(2.1±0.4)%;合并β地贫分别为(134±11.3)g/L、(71.6±0.9)fL、(21.7±1.0)pg、(92.7±0.6)%和(5.5±0.8)%,无Hb A。结论单纯Hb J-Bangkok杂合子血液学表型正常,合并不同类型地贫时表型存在差异,临床应结合表型来开展遗传咨询工作。

Analysis of phenotypes of Hb J-Bangkok and concomitant thalassemia

Objective To analyze the hematological phenotypes of Hb J-Bangkok and concomitant thalassemia.Methods In total 72397 samples were screened by using capillary electrophoresis.Samples with Hb J-Bangkok were identified by DNA sequencing and analysis of red blood cell parameters.Gap-PCR and PCR-reverse dot blotting(PCR-RDB)were used for analyzing the thalassemia genes.Results Thirty one cases of Hb J-Bangkok were identified,all of which were heterozygotes.The hematological phenotype index(Hb,mean corpuscular volume,mean corpuscular hemoglobin,Hb J-Bangkok,Hb A2)for male carriers of Hb J-Bangkok were(158±13.0)g/L,(90.1±2.3)fL,(31.1±2.5)pg,(51.3±0.7)%and(2.5±0.1)%,those for female carriers were(124±9.3)g/L,(93.3±4.9)fL,(31.1±1.6)pg,(50.9±1.1)%and(2.6±0.2)%,those for Hb J-Bangkok and anα3.7 deletion were 124 g/L,82.1 fL,26.1 pg,49.4%and 2.4%,those for Hb J-Bangkok and--SEA deletion were(120±14.1)g/L,(67.7±5.7)fL,(20.5±2.6)pg,(50.1±1.9)%and(2.1±0.4)%,and those for Hb J-Bangkok andβ-thalassemia-related variants were(134±11.3)g/L,(71.6±0.9)fL,(21.7±1.0)pg,(92.7±0.6)%,(5.5±0.8)%.No Hb A was found among the Hb J-Bangkok and concomitantβ-thalassemia carriers.Conclusion Hb J-Bangkok heterozygotes have normal hematological phenotypes,though they may show different hematological characteristics when concomitant with different types of thalassemia,for which genetic counseling should be provided accordingly.