广东地区HbH病合并β地贫及中重型β地贫合并α地贫患者的血液学特征分析  

Hematological characteristics analysis of patients with HbH disease combined withβ-thalassemia and patients with middle or heavyβ-thalassemia combined withα-thalassemia in Guangdong Province

作　　者：张艳霞[1] 杜丽[1] 王继成[1] 秦丹卿[1] 袁腾龙 姚翠泽 梁杰 陈延冰 Zhang Yanxia;Du Li;Wang Jicheng;Qin Danqing;Yuan Tenglong;Yao Cuize;Liang Jie;Chen Yanbing(Medical Genetics Center,Guangdong Women and Children Health Care Hospital,Guangzhou,Guangdong 510010,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：《中国产前诊断杂志（电子版）》2020年第4期23-26,共4页Chinese Journal of Prenatal Diagnosis(Electronic Version)

基　　金：广东省医学科研基金(B2019150)。

摘　　要：目的对2005年5月至2020年4月来广东省妇幼保健院就诊且血红蛋白电泳和基因诊断确诊的血红蛋白H病(HbH病)合并β地贫及中重型β地贫合并α地贫患者进行血液学特征分析,为临床遗传咨询及产前诊断提供指导意义。方法采用血常规检测及血红蛋白电泳方法分别获得HbH病合并β地贫及中重型β地贫合并α地贫患者的红细胞参数及各类型血红蛋白的含量,使用聚合酶链式反应(polymerase chain reaction,PCR)结合反向点杂交(reverse dot blot,RDB)、gap-PCR等方法进行地中海贫血基因检测。结果在近5年来就诊于本院的患者中,HbH病合并β地贫的患者有19例(男性7例、女性12例),其血红蛋白(hemoglobin,Hb)的平均水平为(103.32±16.66)g/L,男性为(120.57±9.82)g/L,女性为(93.25±10.41)g/L;男性与女性的Hb平均水平比较,差别有统计学意义(P<0.01)。HbA2的平均水平为(4.55±0.94)%;男性为(4.33±1.32)%,女性为(4.68±0.58)%,男性与女性的HbA2平均水平比较,差别没有统计学意义(P>0.05)。中重型β地贫合并α地贫的患者有19例(男性8例,女性11例),Hb的平均水平为(91.89±16.44)g/L,男性为(97.88±12.85)g/L,女性为(87.55±17.37)g/L;HbA2的平均水平为(4.94±2.62)%,男性为(3.85±1.84)%,女性为(5.74±2.80)%,男性与女性的Hb及HbA2平均水平比较,差别均没有统计学意义(P>0.05)。结论在38例病例中,患者的血常规结果及临床表现均显示为轻中度贫血。Objective To analyze the hematological characteristics of patients with hemoglobin H disease(HbH disease)combined withβ-thalassemia,as well asβ-thalassemia intermedia orβ-thalassemia major combined withα-thalassemia,which were diagnosed by hemoglobin electrophoresis and gene diagnosis from May 2005 to April 2020 in our hospital and to provide guidance for clinical genetic counseling and prenatal diagnosis.Methods The phenotype parameters of patients with HbH disease compounded withβ-thalassemia andβ-thalassemia intermedia or major compounded withα-thalassemia were obtained by performing routine blood test and hemoglobin electrophoresis,respectively.The genetype of thalassemia was detected by gap-PCR and PCR-RDB.Results Among the patients came to our hospital in the past 5 years,19(7 males and 12 females)patients were detected HbH disease compounded withβ-thalassemia,the average level of hemoglobin(Hb)was(103.32±16.66)g/L,in which(120.57±9.82)g/L was for male patients and(93.25±10.41)g/L for female patients.There was a statistically significant difference(P<0.01)in the Hb level between male and female patients.The average level of HbA2 was(4.55±0.94)%,in which(4.33±1.32)%was for males and(4.68±0.58)%for females.There was no statistically significant difference in the average level of HbA2 between males and females(P>0.05).19 patients(8 males and 11 females)were diagnosed asβ-thalassemia intermedia or major compounded withα-thalassemia.The average level of Hb and HbA2 were respectively(91.89±16.44)g/Land(4.94±2.62)%,in which(97.88±12.85)g/L and(3.85±1.84)%were for males and(87.55±17.37)g/L and(5.74±2.80)%for females.No statistically significant differences in the average Hb and HbA2 levels between males and females were observed.Conclusion In the 38 cases,the results of blood routine examination and clinical manifestations showed mild and moderate anemia.

关 键 词：HBH病 中重型β地贫 地中海贫血 血液学特征 

分 类 号：R714.56[医药卫生—妇产科学]