摘要
目的分析α-地中海贫血血红蛋白H(HbH)病基因型与血液学表型的关系,探讨αWS型HbH(cαWSα/--SEA型)产前诊断的必要性。方法选取2016年1月至2019年8月于珠海市妇幼保健院产检孕妇或配偶765名,对平均红细胞体积<82 fl和/或平均血红蛋白含量<27 pg者及配偶同时行血红蛋白(Hb)分析和α-地中海贫血基因检测,夫妻任何一方HbA2≥3.5%时,双方同时行β基因检测。按α珠蛋白基因型分为2组:(1)静止型组(307例):包括αCSα/αα、αQSα/αα、αWSα/αα、-α3.7/αα、-α4.2/αα型各46、70、47、62和82例;同期正常对照组(αα/αα型)107例。(2)HbH病组(266例):包括αCSα/--SEA、αQSα/--SEA、αWSα/--SEA、-α3.7/--SEA和-α4.2/--SEA型各32、12、73、89和60例,同期轻型α-地中海贫血(--SEA/αα型)对照组85例。回顾性分析5种常见静止型及HbH病基因型之间及其与对照组间红细胞指标的差异。结果与正常对照组(αα/αα型)比较,静止型组αCSα/αα和αQSα/αα型的Hb水平较低(P均<0.01),而-α3.7/αα、-α4.2/αα和αWSα/αα型差异无统计学意义(P均>0.05);女性个体Hb水平处于正常参考区间的αWSα/--SEA和--SEA/αα型分别占84.1%(37/44)和87.8%(36/41),而α3.7/--SEA、-α4.2/--SEA、αCSα/--SEA、αQSα/--SEA型则表现为中度贫血居多,分别为58.0%(29/50)、71.0%(22/31)、10/12和5/6。男性个体αWSα/--SEA和--SEA/αα型的Hb水平均在正常参考区间,而αQSα/--SEA、-α3.7/--SEA和-α4.2/--SEA型则以轻度贫血为主,分别占6/6、92.3%(36/39)、79.3%(23/29),αCSα/--SEA型的中度贫血者占70.0%(14/20)。与--SEA/αα型对照组比较,αWSα/--SEA型的红细胞计数(RBC)、Hb、红细胞压积(Hct)、红细胞分布宽度(RDW)差异无统计学意义(P均>0.05),且RBC、Hb、Hct水平均高于其他基因型HbH病(P均<0.001)。结论HbH病血液学表型与α-珠蛋白基因型密切有关,除αWSα/--SEA型外,其他非缺失型HbH病血液学表型比缺失型HbH病严重,而αWSα/--SEA型则明显轻于其他基因型HbH病且类同于--SEA/αα型。产前诊断遗传咨询中,在知情同意下,αWSα/--SEA型可免于产前诊断。
Objective To analysis the relationship between the genotype of hemoglobin H(HbH)disease and hematological phenotype to explore the necessity ofαWS genotype HbH disease for prenatal diagnosis.Methods Seven hundred and sixty-five cases with varies genotypes of alpha-thalassemia were classified into 2 groups based onαglobin genotype including silent thalassemia groupαCSα/αα,αQSα/αα,αWSα/αα,-α3.7/αα,-α4.2/ααgenotypes 46,70,47,62,82 cases,respectively,and with 107 casesαα/ααgenotype as normal control and intermediate thalassemia groupαCSα/--SEA,αQSα/--SEA,αWSα/--SEA,-α3.7/--SEA,-α4.2/--SEA genotypes 32,12,73,89,60 cases,respectively,with 85 cases--SEA/ααgenotype as mild control,retrospective analysis the differences of RBC parameters of varies genotypes HbH disease or with(αα/--SEA)genotype.Results Compared to normal group(αα/αα)genotype,the Hb levels ofαCSα/ααandαQSα/ααgenotypes were lower(all P<0.01),while there were no statistical differences ofαWSα/αα,-α3.7/αα,-α4.2/ααgenotypes(all P>0.05).In the female,the normal Hb levels ofαWSα/--SEA andαα/--SEA genotypes were 84.1%(37/44)and 87.8%(36/41)respectively,α3.7/--SEA,-α4.2/--SEA,αCSα/--SEA,αQSα/--SEA genotypes were given priority to with moderate anemia(accounted for 58.0%(29/50),71.0%(23/31),10/12,5/6,respectively).The Hb levels were all normal in the male withαWSα/--SEA andαα/--SEA genotypes,Individuals withαQSα/--SEA,-α3.7/--SEA,-α4.2/--SEA genotypes were given priority to with mild anemia(accounted for 6/6,92.3%(36/39),79.3%(23/29),respectively),while that withαCSα/--SEA genotype having moderate anemia accounted for 70.0%(14/20).There were no statistical differences of RBC,Hb,Hct,RDW betweenαWSα/--SEA andαα/--SEA genotypes.The RBC,Hb,Hct ofαWSα/--SEA genotype were higher than other HbH disease genotypes.Conclusions The hematological phenotype of HbH disease are related toα-globin genotype,and non-deletional HbH disease is severer than that of deletional HbH disease except forαWSα/--SEA genotype,whileαWSα/--SEA genotype is milder than other genotypes HbH diseaseand similar toαα/--SEA genotype.SoαWSα/--SEA may be not necessary for prenatal diagnosis with informed consent in prenatal diagnosis genetic counseling.
作者
张素粉
肖奇志
陈斌焕
李恋湘
周心怡
周玉球
Zhang Sufen;Xiao Qizhi;Chen Binhuan;Li Lianxiang;Zhou Xinyi;Zhou Yuqiu(Department of Clinical Laboratory&Institute of Medical Genetics,Zhuhai Municipal Maternal and Child Healthcare Hospital,Zhuhai 519001,China)
出处
《中华检验医学杂志》
CAS
CSCD
北大核心
2020年第12期1232-1236,共5页
Chinese Journal of Laboratory Medicine
关键词
Α地中海贫血
血红蛋白H病
血液学参数
产前诊断
alpha-Thalassemia
Hemoglobin H disease
Hematological parameters
Prenatal diagnosis
