广东地区不同基因型血红蛋白H病的血液学特征分析  

Analysis of hematological characteristics of hemoglobin H diseases with different genotypes in Guangdong Province

作　　者：张艳霞[1] 杜倩怡[1] 王继成[1] 杜丽[1] 秦丹卿[1] 姚翠泽 袁腾龙 Zhang Yanxia;Du Qianyi;Wang Jicheng;Du Li;Qin Danqing;Yao Cuize;Yuan Tenglong(Medical Genetics Center,Guangdong Women and Children Health Care Hospital,Guangzhou 511442,China)

机构地区：[1]广东省妇幼保健院医学遗传中心,广州511442

出　　处：《新医学》2020年第12期939-942,共4页Journal of New Medicine

基　　金：广东省医学科研基金(B2019150)。

摘　　要：目的分析广东地区血红蛋白H(HbH)病的血液学特征,为临床遗传咨询及产前诊断提供参考。方法对广东地区283例经血红蛋白电泳和基因诊断确诊的HbH病患者进行血液学特征分析,采用血常规检测及Hb电泳方法分别获取各种基因型HbH病的红细胞参数及各类型Hb含量,使用裂口PCR和PCR结合反向点杂交方法进行地中海贫血基因检测。结果283例HbH病患者中,缺失型HbH病202例(71.38%),包括132例--^SEA/-α^3.7和70例--^SEA/-α^4.2;非缺失型HbH病81例(28.62%),分别为7例--^SEA/α^QSα、46例--^SEA/α^WSα和28例--^SEA/α^CSα。非缺失型HbH病患者(除--^SEA/α^WSα外)Hb为(78.69±15.65)g/L,比缺失型HbH病患者的(96.69±15.72)g/L低(P<0.001)。非缺失型HbH病患者(除--^SEA/α^WSα外)HbH为(15.65±6.18)%,比缺失型HbH病患者的(7.00±4.18)%高(P<0.001)。其中孕妇的红细胞计数较低,为(3.37±0.71)×10^12/L,Hb仅(66.75±14.27)g/L。结论在广东地区HbH病中,缺失型HbH病例占大多数,主要以--^SEA/-α^3.7为主,其次为--^SEA/-α^4.2。非缺失型HbH病患者贫血程度较缺失型HbH病患者重,HbH病的孕妇贫血程度更为严重。Objective To analyze the hematological characteristics of hemoglobin H(HbH)diseases in Guangdong Province to provide guidance for clinical genetic counseling and prenatal diagnosis.Methods Hematological characteristics of 283 patients with HbH diseases in Guangdong Province were analyzed.Blood routine parameters and HbH content of various genotypes of HbH diseases in Guangdong Province were obtained by blood routine detection and hemoglobin electrophoresis,and the gene of thalassemia was detected by gap-PCR and PCR-RDB.Results Among 283 patients with HbH diseases,202 cases(71.38%)were diagnosed with deletional HbH diseases including 132 cases of--^SEA/-α^3.7 and 70 cases of--^SEA/-α^4.2.There were 81 cases of non-deletional HbH diseases including 7 cases of--^SEA/α^QSα7,46 cases of--^SEA/α^WSαand 28 cases of--^SEA/α^CSα.The average Hb level in the non-deletional HbH group(except--^SEA/α^WSα)was(78.69±15.65)g/L,significantly lower than(96.69±15.72)g/L in the deletional HbH group(P<0.001).The average HbH in the non-deletional HbH group(except--^SEA/α^WSα)was(15.65±6.18)%,significantly higher than(7.00±4.18)%in the deletional HbH group(P<0.001).In the pregant women,the red blood cell level was(3.37±0.71)×1012/L,and the Hb level was(66.75±14.27)g/L.Conclusions Among all 283 cases of HbH disease in Guangdong Province,a majority of them are diagnosed with deletional HbH diseases,mainly--^SEA/-α^3.7,followed by--^SEA/-α^4.2.The degree of anemia in the non-deletional HbH group is more severe than that in the deletional HbH group,especially in the pregnant women.

关 键 词：血红蛋白H病 地中海贫血 血液学特征 

分 类 号：R556.61[医药卫生—血液循环系统疾病]