αβ复合型地中海贫血临床表型及血液学分析  

Clinical Phenotypic Analysis of Alpha-β Complex Thalassemia and its Correlation with Hematology

作　　者：周丽珍 黄劲柏 陆美环 ZHOU Lizhen;HUANG Jinbai;LU Meihuan(Department of Clinical Laboratory,Yingde Maternal and Child Health Hospital,Qingyuan,Guangdong 513000)

机构地区：[1]英德市妇幼保健院检验科,广东清远513000

出　　处：《智慧健康》2022年第10期72-74,81,共4页Smart Healthcare

摘　　要：目的 探讨αβ复合型地中海贫血临床表型及血液学分析。方法 选择2017年3月-2019年12月αβ复合型地中海贫血患者144例和单纯β地贫患者174例作为对象,采用SYSMEX的XN-1000型血细胞自动分析仪完成患者血常规测定包括:平均红细胞体积(MCV)、血红蛋白(Hb)及红细胞血红蛋白(MCH);采用分子杂交技术及Gap-PCR技术测定患者基因型;采用全自动毛细管电泳仪(购自法国sebia公司)测定血红蛋白电泳(包括血红蛋白A2、血红蛋白F);采用SPSS 24.0软件处理,计数资料行χ^(2)检验,采用n(%)表示,计量资料行t检验,采用(±s)表示,P <0.05差异有统计学意义。结果 144例αβ复合型地中海贫血及174例单纯β地中海贫血患者均完成α、β基因测定,结果表明:αβ复合型地中海贫血基因型分布中,βCD41-42/βn复合--SEA/αα占20%,其次βIVS-Ⅱ-654/βn复合--SEA/αα占11.1%、βCD41-42/βn复合-α(3.7)/αα占11.1%。αβ复合型地中海贫血患者MCV、MCH、Hb水平均高于单纯β型地中海贫血患者(P <0.05);HbA2水平低于单纯β型地中海贫血患者(P <0.05)。αβ复合型地中海贫血患者与单纯β型地中海贫血患者的HbF水平差异无统计学意义(P>0.05)。结论 αβ复合型地中海贫血双重杂合子发生率较高,且血液学具有特异性,加强患者血液学水平测定有助于降低临床漏诊率,正确地指导遗传咨询及产前诊断。Objective To investigate the clinical phenotype analysis of αβ complex thalassemia.Methods From March 2017 to December 2019, 144 patients with αβ complex thalassemia and 174patients with simple β thalassemia were selected as subjects. The Sysmex XN-1000 analyzer was used to complete the measurement of red blood cell parameters including: mean red blood cell volume.(MCV),hemoglobin(Hb) and MCH;use molecular hybridization technology and Gap-PCR technology to determine the genotype of patients;use Sebia analysis technology to determine hemoglobin electrophoresis for determination(including hemoglobinA2,hemoglobinF);SPSS24.0 software was used for processing. χ^(2) test was used for enumeration data, which was represented by N(%);T test was used for measurement data,which was represented by( ±s). The P <0.05 was statistically significant. Results Both 144 patients with αβ complex thalassemia and simple βthalassemia completed the determination of α and β genes test. The results showed that :In the distribution of αβ complex thalassemia genotype, β CD41-42/βn complex--SEA/ααaccounted for 20%,βIVS-Ⅱ-654/βn complex--SEA/ααaccounted for 11.1%、β CD41-42/βn complex-α(3.7)/ααaccounted for 11.1%.The levels of MCV、MCH、and Hb in patients with αβ complex thalassemia were higher than those in patients with simple βthalassemia.(P<0.05) The level of HbA2 Was lower than that of simple β-type thalassemia patients(P<0.05).The levels of HbF between the patients with αβ complex thalassemia and patients with simple βthalassemia has no statistically significant(P>0.05).Conclusion The incidence of double heterozygosity in αβ complex thalassemia is relatively high, and hematology is specific. Strengthening the measurement of hematology level of patients can help reducing the rate of clinical missed diagnosis, and correctly guide genetic counseling and prenatal diagnosis.

关 键 词：αβ复合型地中海贫血 双重杂合子 临床表型 血液学 

分 类 号：R556.61[医药卫生—血液循环系统疾病]