珠蛋白生成障碍性贫血HbCS-H病的筛查与诊断现状

Current status of screening and diagnosis of thalassemia HbCS-H disease

目的对非缺失型α珠蛋白生成障碍性贫血(后简称地贫)血红蛋白(Hb)CS-H病表型及基因型的表现特点和防控现状进行分析,以加强产前筛查医务工作者对HbCS-H病的诊断水平和防控意识。方法采用全血细胞分析仪、Sebia Capillarys2型毛细管电泳仪检测地贫表型;采用跨越断裂点聚合酶链反应(GAP-PCR)和聚合酶链反应(PCR)反向点杂交技术(RDB)检测国内常见的3种缺失型α地贫(αα/--SEA、αα/α3.7、αα/α4.2),3种常见α地贫点突变(αCS、αQS、αWS)和17种β地贫点突变基因。结果 104 361例地贫筛查者中,毛细管电泳出现CS条带的296例(0.28%),包括CS型、CS+H+Bart′s型、CS+H型、CS+HbE型、CS+异常Hb条带型等5种表现形式。其中,24例电泳出现CS+H+Bart′s型,2例出现、CS+H型异常条带,全部26例患者经基因确诊为HbCS-H病,基因型均为--SEA/αCSα。选取30例电泳无CS条带者作为对照,均未能检测到CS基因。结论 HbCS-H病患者所携带的SEA和CS基因分别来自父母双方;单纯携带SEA或CS者,血液学表现为轻微异常或正常。毛细管电泳能有效分离出CS条带,提高对电泳筛查报告单的解读能力,正确应用基因确诊手段,发现有可能出生HbCS-H患儿的高危家庭并进入产前诊断,对防控HbCS-H患儿的出生有重要意义。

ObjectiveTo analyze the manifestations characteristics and prevention and control status quo of phenotype and genotype in non deletional thalassemia hemoglobin（Hb）CS H disease in order to increase the diagnosis level of the medical staffs conducting the prenatal screening to HbCS H disease and strengthen the prevention and control awareness on this disease.MethodsThe whole blood cells analyzer and Sebia Capillarys type 2 capillary electrophoresis（CE）apparatus were applied to detect thalassemia phenotype;GAP PCR and PCR reverse dot blot（RDB）hybridization technique were used to detect 3 kinds of most common deletional alpha thalassemia（αα/--^ SEA,αα/α^3.7,αα/α^4.2）,3 kinds of common alpha thalassemia point mutations（α^CS,α^QS,α^WS）and 17 kinds of beta thalassemia point mutations at home.ResultsAmong 104 361 cases of thalassemia screening,CE appeared the CS bands in 296 cases（0.28%）,including the type CS,CS＋H＋Bart＇s,CS＋H,CS＋HbE,CS＋abnormal Hb bands.Among them,24 cases of electrophoresis appeared the type CS＋H＋Bart＇s in 1 case,type CS＋H in 2 cases,the patients with type CS＋H were diagnosed as HbCS H disease by gene detection,the genotype was --^SEA/αC^Sα.Thirty cases of electrophoresis without CS band were used as the control,the CS gene was not detected.ConclusionThe patients with HbCS H disease carry SEA and CS genes from both parents,the patients carrying simple SEA or CS have mild hematologic abnormalities or normal.CE can effectively separate the CS band,increases the interpreting ability to electrophoresis screening report,correctly uses the gene diagnosis means,finds the high risk family possibly delivery the newborn of HbCS H disease and make them enter the prenatal examination,which has an important significance for preventing and controlling the delivery of HbCS H newborn.