异常血红蛋白Hb J-Bangkok和Hb G-Coushatta的基因型与表型分析  

The genotype and phenotype of abnormal hemoglobin Hb J-Bangkok and Hb G-Coushatta

作　　者：裴元元[1] 温丽娟[1] 冉健[1] 魏凤香[1] Pei Yanyuan;Wen Lijuan;Ran Jian;Wei Fengxiang(Central Laboratory,Long gang District Maternity&Child Healthcare Hospital of Shenzhen City,Shenzhen 518172,Guangdong,China)

机构地区：[1]深圳市龙岗区妇幼保健院中心实验室,广东深圳518172

出　　处：《中国产前诊断杂志（电子版）》2022年第4期28-31,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的分析2种β珠蛋白基因突变所致异常血红蛋白Hb J-Bangkok和Hb G-Coushatta的基因型及其血液学特征。方法收集深圳市龙岗区妇幼保健院2020年4至10月毛细管血红蛋白电泳检测出异常血红蛋白条带的病例4例,采用PCR-流式荧光杂交法及基因测序方法进行基因诊断,对明确诊断的异常血红蛋白病例进行回顾性血液学参数分析。结果4个病例中检测到2种β珠蛋白基因突变,均为杂合子。3例为Hb J-Bangkok,血液学表型正常,血红蛋白电泳可见Hb A峰前Z12区有一条快速的异常血红蛋白;1例为Hb G-Coushatta,血液学表型未见异常,血红蛋白电泳Z(D)区有一条慢速异常血红蛋白。结论异常血红蛋白Hb J-Bangkok和Hb G-Coushatta的携带者均无小细胞低色素贫血的表现。毛细管电泳和基因测序技术联合应用,可以分辨和发现更多的异常血红蛋白。Objective To analyze the genotype and hematological characteristics of two abnormal hemoglobin Hb J-Bangkok and Hb G-Coushatta caused byβ-Globin gene mutation.Methods Four cases with abnormal hemoglobin bands detected by capillary hemoglobin electrophoresis were collected.PCR flow fluorescence hybridization and gene sequencing were used for gene diagnosis.The hematological parameters of the clearly diagnosed cases of abnormal hemoglobin were analyzed retrospectively.Results 2 kinds ofβGlobin gene mutations were detected in the four cases.All were heterozygotes.Three cases were Hb J-Bangkok,with normal hematological phenotype.Hemoglobin electrophoresis showed a rapid abnormal hemoglobin in Z12 area before Hb A.One case was Hb G-Coushatta,the hematological phenotype was also normal,and there was a slow abnormal hemoglobin in the Z(D)area of hemoglobin electrophoresis.Conclusion Carriers of abnormal hemoglobin Hb J-Bangkok and Hb G-Coushatta had no manifestation of small cell hypopigmentation anemia.The combined application of capillary electrophoresis and gene sequencing technology can distinguish and find more abnormal hemoglobin.

关 键 词：异常血红蛋白 Hb J-Bangkok Hb G-Coushatta 

分 类 号：R715.5[医药卫生—妇产科学]