中国人3种最常见缺失型β地中海贫血的鉴别诊断  

Differential Diagnosis of Three Commonest Deletion β-Thalassemia in Chinese

作　　者：王继成[1] 姚翠泽 黄演林[1] 刘玲[1] 袁腾龙 秦丹卿[1] WANG Ji-Cheng;YAO Cui-Ze;HUANG Yan-Lin;LIU Ling;YUAN Teng-Long;QIN Dan-Qing(Medical Genetics Center,Guangdong Women and Children Hospital,Maternal and Children Metabolic-Genetic Key Laboratory,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》2021年第4期1247-1250,共4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:分析中国型^(G)γ^(+)(^(A)γδβ)^(0)地中海贫血、东南亚型遗传性胎儿血红蛋白持续增高症(SEA-HPFH)和台湾型β地中海贫血患者的血液学特征。方法:应用血红蛋白电泳和血常规检测对所有采集的外周血标本进行血液学指标分析,使用PCR-流式荧光杂交法和Gap-PCR的方法进行珠蛋白基因突变检测,并对相关血液学参数进行统计学分析。结果:3种缺失型β地中海贫血患者均表现为小细胞低色素性贫血,其中台湾型β地中海贫血患者的MCH和MCV值最低。血红蛋白电泳结果显示,3者都有显著增高的HbF,除中国型^(G)γ^(+)(^(A)γδβ)^(0)地中海贫血患者的HbA2值有所降低外,其他2种缺失型β地贫患者的HbA2水平都有明显升高。中国型^(G)γ^(+)(^(A)γδβ)^(0)地中海贫血杂合子和SEA-HPFH杂合子的患者除Hb无统计学差异外(P=0.591),MCV、MCH、HbA2及HbF值均有统计学差异(P <0.001)。结论:通过对中国人3种最常见缺失型β地中海贫血患者血液学特性的分析,可以为其鉴别诊断和遗传咨询提供指导。Objective:To analyze the hematological characteristics of Chinese^(G)γ^(+)(^(A)γδβ)^(0)-thalassemia,SEA-HPFH and Taiw an type β-thalassemia.Methods:Hemoglobin electrophoresis and blood routine test w ere used to analyze the hematological indexes of all peripheral blood samples,PCR-Flow fluorescent hybridization and Gap-PCR w ere used to detect the globin gene mutations and the data w ere analyzed statistically.Results:The 3 types of deletion β-Thalassemia patients w ere show ed as hypochromic small cell anemia.The M CH and M CV values of Taiw an type β-thalassemia patients w ere the low est.The results of hemoglobin electrophoresis show ed that the increasing of Hb F w as found in all of the 3 types.Except for the decreasing of Hb A2in Chinese^(G)γ^(+)(^(A)γδβ)^(0)-thalassemia,the levels of Hb A2in the other tw o deletionβ-thalassemia patients w ere significantly increased.Except for Hb,there w ere significant differences in M CV,M CH,Hb A2and Hb F betw een Chinese^(G)γ^(+)(^(A)γδβ)^(0)-thalassemia and SEA-HPFH(P<0.001).Conclusion:Through analyze the hematological characteristics,it can be provide that the guidance for the differential diagnosis and genetic consultation of the three commonest deletion β-thalassemia in Chinese.

关 键 词：中国型^(G)γ^(+)(^(A)γδβ)^(0)地中海贫血 东南亚型遗传性胎儿血红蛋白持续增高症 台湾型β地中海贫血 鉴别诊断 

分 类 号：R556.61[医药卫生—血液循环系统疾病] R440[医药卫生—内科学]