罕见异常血红蛋白的诊断和临床特征分析  

Hematological Analysis and Diagnosis of Two Rare Abnormal Hemoglobin

作　　者：王继成[1] 郭浩[1] 黄华洁 袁腾龙 姚翠泽 秦丹卿[1] 杜丽[1] WANG Ji-Cheng;GUO Hao;HUANG Hua-Jie;YUAN Teng-Long;YAO Cui-Ze;QIN Dan-Qing;DU Li(Medical Genetics Center,Key Laboratory of Metabolic and Genetic Disease in Women and Children,Guangdong Women and Children Hospital,Guangzhou 511442,Guangdong Province,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广东省妇幼代谢与遗传病重点实验室,广东广州511442

出　　处：《中国实验血液学杂志》2020年第6期2028-2032,共5页Journal of Experimental Hematology

基　　金：广东省医学科学技术研究基金项目(B2019150)。

摘　　要：目的:分析2种分子诊断为罕见异常血红蛋白Hb Broomhill和Hb Hornchurch的血液学特征,并对2个家系进行产前诊断。方法:采集所有病例外周血进行红细胞参数和血红蛋白电泳分析,收集羊水用于产前诊断。PCR-流式荧光杂交法和基因测序法用于珠蛋白基因突变检测。结果:共检测到3例Hb Broomhill病例,其中2例合并常见的东南亚缺失型α地中海贫血,表现为小细胞低色素性轻度贫血,血红蛋白电泳可见Hb A峰前有一特异性的小肩峰;1例为β0地中海贫血合并Hb Hornchurch,也表现为轻度贫血,血红蛋白电泳可见Hb A2位置有一异常血红蛋白变异体峰。结论:异常血红蛋白Hb Broomhill和Hb Hornchurch的携带者均无小细胞低色素贫血的表现,当合并同型地中海贫血时,也不加重贫血等血液学症状。Objective:To analyze the hematological characteristics of Hb Broomhill and Hb Hornchurch,and prenatal diagnosis should be carried out in two families.Methods:RBC parameters and hemoglobin electrophoretogram were analyzed on the peripheral blood of all patients,and amniotic fluid was collected for prenatal diagnosis.PCR-Flow fluorescent hybridization and Sanger sequencing were performed for gene diagnosis of thalassemia.Results:Three cases of Hb Broomhill were detected,including 2 cases with common SEAα-thalassemia,which was characterized by hypochromic microcytic mild anemia,the capillary electrophoregram revealed a tiny shoulder peak before the Hb A peak;1 case was diagnosed as Hb Hornchurch combined withβ-thalassemia,which also showed mild anemia.Hemoglobin electrophoretogram showed an abnormal hemoglobin variant peak at Hb A2 zone.Conclusion:The carriers of Hb Broomhill and Hb Hornchurch do not have microcytic hypochromic anemia,which do not aggravate the hematological symptoms,such as anemia when being combined with thalassemia of the same type.

关 键 词：Hb Broomhill Hb Hornchurch 异常血红蛋白 地中海贫血 

分 类 号：R556[医药卫生—血液循环系统疾病] R331[医药卫生—内科学]