新生儿异常Hb Q的家系分析

Pedigree Analysis of Abnormal Hb Q in Neonates

目的报道新生儿异常Hb Q的家系分析结果,进而加强医务人员对Hb Q患者及其他异常Hb携带者的重视。方法采集患者家系成员的外周血标本,行血常规检测、血红蛋白(Hb)电泳、变性珠蛋白小体(Heinz小体)试验及α、β地中海贫血基因检测。结果5例先证者及其父或母MCV、MCH均降低,4例先证者及其父或母α基因型均为-α^(4.2)/αα;1例先证者α基因型为--SEA/-α^(4.2),其父及母α基因型分别为--SEA/αα、-α^(4.2)/αα。4例先证者的Hb电泳在S区含有(19.2-24.0)%的区带,Hb Bart's:(0.3-1.4)%,Hb A:(8.1-21.0)%,Hb F:(59.3-67.4)%。其父或母为异常Hb Q1含量:(27.9-29.1)%,Hb A:(68.2-69.7)%,Hb A2:(1.7-1.9),Hb Q2:(0.7-0.8)%。1例先证者Hb电泳在S区含有46.3%的区带,Hb Bart's:26.9%,Hb F:25.7%,未见Hb A,且Heinz小体试验阳性,阳性率为0.5%。其父Heinz小体试验阳性。其母为异常Hb Q1含量:28.5%,Hb A:69.1%,Hb A2:1.7%,Hb Q2:0.7%。结论根据家系遗传和地贫基因分析,推断上述5例先证者及其父或母的异常血红蛋白均为α链变异的Hb Q连锁静止型α^(4.2)地贫。此5例家系的报道提升了医务人员对异常血红蛋白复合α地中海贫血的认知,对优生优育与遗传咨询具有重要指导意义。

Objective We performed the pedigree analysis of abnormal Hb Q,and report this study,so as to strengthen the attention of clinicians to Hb Q patients and other abnormal Hb gene carriers.Methods Peripheral blood samples from family member of three patients were collected for routine hematologic test,hemoglobin electrophoresis,denatured globin body(Heinzbody)test andα、βthalassemia gene detection.Results MCV,MCH of five probands and their father or mother all decreased,αgenotype of four probands and their father or mother were all-α^(4.2)/αα.αgenotype of one proband was--SEA/-α^(4.2),his father or mother were--SEA/αα、-α^(4.2)/αα.The S zone of four probands hemoglobin electrophoresis contained(19.2-24.0)%of abnormal bands.Hb Bart's was(0.3-1.4)%,Hb A was(8.1-21.0)%and Hb F was(59.3-67.4)%.His father or mother was abnormal Hb Q1,and the content was(27.9-29.1)%.Hb A was(68.2-69.7)%,Hb A2 was(1.7-1.9)%and Hb Q2 was(0.7-0.8)%.Hb electrophoresis S zone of one proband contained 46.3%abnormal bands.Hb Bart's was 26.9%,Hb F was 25.7%,while Hb A had not been detected.Heinz body test was positive,and the detection rate was 0.5%.His father's Heinz body test was also positive.The abnormal Hb Q1 of his mother content was 28.5%.Hb A was 69.1%,Hb A2 was 1.7%,and Hb Q2 was 0.7%.Conclusion Based on the analysis of family heredity and thalassemia gene,the abnormal hemoglobin of the five probands and their parents were all Hb Q linked static type of thalassemia a4.2 withαchain variation.The five cases of abnormal hemoglobin complexα-thalassemia have enriched the knowledge of medical workers,which is of great significance for the healthy birth and guidance of genetic counseling.