两种常见缺失型β-珠蛋白生成障碍性贫血的基因型及血液学表型特征  

Genotype and hematology characteristics of two common deletionβ-thalassemia

作　　者：鞠爱萍[1] 付晓彤 刘艳霞[1] 林铿[1] 李娜 李熹翀 JU Aiping;FU Xiaotong;LIU Yanxia;LIN Keng;LI Na;LI Xichong(Department of Clinical Laboratory,Maternity and Child Health Hospital of Huadu District,Guangzhou,Guangdong 510800,China;Nanchang University Queen Mary School,Nanchang,Jiangxi 330031,China;Nursing Department,The Tanbu Town Central Hospital of Huadu District,Guangzhou,Guangdong 510800,China)

机构地区：[1]广东省广州市花都区妇幼保健院检验科,广东广州510800 [2]南昌大学玛丽女王学院临床医学院,江西南昌330031 [3]广东省广州市花都区炭步卫生院护理部,广东广州510800

出　　处：《检验医学与临床》2023年第2期177-180,185,共5页Laboratory Medicine and Clinic

基　　金：广东省医学科研基金立项项目(B2022066);广州市花都区医疗卫生一般科研专项项目(21-HDWS-108)。

摘　　要：目的探讨广州市花都区育龄人群中国型^(G)γ+(^(A)γδβ)^(0)珠蛋白生成障碍性贫血即地中海贫血(简称地贫)和东南亚型遗传性持续性胎儿血红蛋白增高症(SEA-HPFH)的基因型分布及血液学表型特征。方法选取2018年1月至2021年7月在广州市花都区妇幼保健院经地贫基因检测的18848例受检者,进行血常规及血红蛋白(Hb)电泳检测,对疑为β-地贫但常规地贫基因型未检出者,采用跨越断裂点聚合酶链反应检测中国型^(G)γ+(^(A)γδβ)^(0)地贫和SEA-HPFH基因型,并对其血液学参数进行统计分析。结果在18848例受检者中检测出中国型^(G)γ+(^(A)γδβ)^(0)地贫7例,其中复合东南亚型α-地贫杂合子(--^(SEA)/αα)1例;检出SEA-HPFH 20例,其中复合--^(SEA)/αα1例,α^(WS)α/αα复合SEA-HPFH/β-281例。两种缺失型β-地贫总检出率为0.14%(27/18848),中国型^(G)γ+(^(A)γδβ)^(0)地贫和SEA-HPFH地贫携带者HbF水平均明显升高,中国型^(G)γ+(^(A)γδβ)^(0)地贫携带者HbA2水平正常或降低,SEA-HPFH地贫携带者HbA2水平升高;两种缺失型β-地贫的杂合子血液学参数除Hb外,平均红细胞体积、平均红细胞血红蛋白含量、HbA2、HbA、HbF水平比较,差异均有统计学意义(P<0.05)。结论通过对中国型^(G)γ+(^(A)γδβ)^(0)地贫和SEA-HPFH的基因型分布和血液学表型特征进行分析,可为两种常见缺失型β-地贫的鉴别诊断、遗传咨询提供参考。Objective To investigate genotype distribution and hematology phenotype characteristics of Chinese^(G)γ+(^(A)γδβ)^(0)-thalassemia and Southeast Asia hereditary persistence of fetal hemoglobin(SEA-HPFH)in the people of reproductive age in Huadu.Methods Peripheral blood samples were collected from 18848 people of reproductive age who participated in free thalassemia testing from January 2018 to July 2021,Maternity and Child Health Hospital of Huadu District.Whole blood cell routine analysis and hemoglobin(Hb)electrophoresis were performed.Those with suspected but undetected commonβ-thalassemia were tested for the Chinese^(G)γ+(^(A)γδβ)^(0)-thalassemia deletional gene and SEA-HPFH by Gap-PCR,and statistical analysis was performed to their hematological parameters.Results Seven cases of Chinese^(G)γ+(^(A)γδβ)^(0)-thalassemia were detected out of 18848 subjects,including 1 case of Chinese^(G)γ+(^(A)γδβ)^(0)with--^(SEA)/αα.A total of 20 cases of SEA-HPFH was detected,including 1 case of SEA-HPFH combined with--^(SEA)/αα,1 case wasα^(WS)α/αα,SEA-HPFH/β-28.The total detection rate of two deletion type ofβ-thalassemia was 0.14%(27/18848).Both Chinese^(G)γ+(^(A)γδβ)^(0)-thalassemia and SEA-HPFH showed microcytic hypochromic anaemia with elevated levels of HbF.The levels of HbA2 were normal or reduced in Chinese^(G)γ+(^(A)γδβ)^(0)-thalassemia and elevated in SEA-HPFH.Except Hb between Chinese^(G)γ+(^(A)γδβ)^(0)carriers and SEA-HPFH carriers,there were statistically significant differences in MCV,MCH,HbA2 and HbF(P<0.05).Conclusion The genotype distribution and hematology phenotype characteristics of Chinese^(G)γ+(^(A)γδβ)^(0)-thalassemia and SEA-HPFH can provide the guidance for differential diagnosis,genetic consultation of the two deletionβ-thalassemia.

关 键 词：中国型^(G)γ+(^(A)γδβ)^(0)珠蛋白生成障碍性贫血 东南亚型遗传性持续性胎儿血红蛋白增高症 基因型 血液学特征 

分 类 号：R714.254[医药卫生—妇产科学] R556.5[医药卫生—临床医学]