广东中山地区211例异常血红蛋白病例分析
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摘要
目的调查中山地区异常血红蛋白(Hb)的发病率;研究常见4种异常血红蛋白携带者以及复合地中海贫血时的血液学特征。方法回顾分析2016年8月至2018年7月我院筛查实验室27 020例成人外周血血红蛋白电泳结果,挑出含有异常血红蛋白条带的病例,统计4种常见异常血红蛋白的发病率,分析其血常规及地贫基因结果,并对部分罕见病例进行珠蛋白基因测序。结果 27 020例外周血电泳结果中,共检出含异常血红蛋白条带者211例,检出率为0.78%。包括HbCS95例,携带率为0.35%;HbE43例,携带率为0.16%;HbNewYork34例,携带率为0.13%;HbQ-Thailand11例,携带率为0.04%;HbS合并Hb Zeng-Cheng 1例;Hb J-Baltimore 1例为国内首次发现;其他未明确的异常血红蛋白26例。Hb CS杂合子血液学参数:Hb 124.5±19.2 g/L,MCV 82.0±5.1 fL,MCH 26.4±2.2 pg;Hb E杂合子血液学参数:Hb 129.0±17.4g/L,MCV 75.6±4.1 fL,MCH 24.7±1.8 pg;Hb CS合并α0-地贫时的血液学参数:Hb 64.8±17.3 g/L,MCV 76.4±9.0fL,MCH 19.6±2.0 pg;1例HbE合并β地贫及α+-地贫的血液学参数:Hb 61 g/L,MCV 58.6 fL,MCH 17.6 pg;Hb E合并Hb CS或α+-地贫时血液学表型正常。结论中山地区是异常Hb的高发区。除Hb E、Hb CS及Hb Q-Thailand外,其他异常血红蛋白杂合子的血液学表型正常,合并地贫时可表现为小细胞低色素性贫血,贫血程度取决于其合并地贫的类型。由于一部分Hb CS及Hb E杂合子血液学表型正常,Hb E合并Hb CS及α+-地贫时血液学表型亦正常,而Hb CS合并α0-地贫及Hb E合并β地贫时表现为中-重度贫血,因此当夫妻一方有α0-地贫或β0-地贫时,另一方应特别注重Hb CS及Hb E的突变检测,对于防止重型非缺失型Hb H病及重型β地贫患儿的出生,指导优生具有重要临床意义。
Objective:To investigate the incidence of abnormal hemoglobin(Hb)in Zhongshan Distrect,explore the hematological characteristics of 4 common abnormal Hb carriers or Hb variants compound thalassemias. Methods:Retrospective analysis of the results of Hb electrophoresis of 27 020 adults in our laboratory from August 2016 to July 2018,then selected cases with abnormal Hb,investigate the incidence of 4 common abnormal Hb. Retrospective analysis of the hematological parameters and thalassemia gene results,gene sequencing was done for some rare cases. Results:Among all 27 020 cases,211 cases of abnormal Hb were detected,the incidence was 0.78%. Including 95 cases of Hb CS(the carrying rate was 0.35%),43 cases of Hb E(the carrying rate was 0.16%),34 cases of Hb New York(the carrying rate was 0.13%),11 cases of Hb Q-Thailand(the carrying rate was 0.04%),1 case of Hb S compound Hb Zeng-Cheng,1 case of Hb J-Baltimore has not been reported yet in Chinese,and 26 cases of unidentified abnormal Hb. The hematological indices of Hb CS heterozygotes:Hb 124.5±19.2 g/L,MCV 82.0±5.1 fL,MCH 26.4±2.2 pg;The hematological indices of Hb E heterozygotes:Hb 129.0±17.4 g/L,MCV 75.6±4.1 fL,MCH 24.7±1.8 pg;The hematological indices of Hb CS compound α0-thalassemia:64.8±17.3 g/L,MCV 76.4±9.0 fL,MCH 19.6±2.0 pg;one case Hb E compound β-thalassemia and α+-thalassemia:Hb 61 g/L,MCV 58.6 fL,MCH 17.6 pg;The hematological phenotype of Hb E compound Hb CS or α+-thalassemia is normal. Conclusion:Zhongshan region has a high incidence of abnormal Hb. Except for Hb E,Hb CS and Hb Q-Thailand,other abnormal Hb heterozygotes have normal hematological phenotype. Small cell hypochromic anemia can be expressed when abnormal Hb compound thalassemia,the degree of anemia depends on the type of combined thalassemia. Due to the normal hematological phenotype of some Hb CS and Hb E heterozygotes,Hb E combined with Hb CS or α+-thalassemia,while Hb CS combined with α0-thalassemia or Hb E combined with β-thalassemia showed severe anemia,so when a couple has α0-thalassemia or β0-thalassemia,the other should test Hb CS or Hb E to prevent birth of severe Hb H disease and severe β-thalassaemia.
Objective:To investigate the incidence of abnormal hemoglobin(Hb)in Zhongshan Distrect,explore the hematological characteristics of 4 common abnormal Hb carriers or Hb variants compound thalassemias. Methods:Retrospective analysis of the results of Hb electrophoresis of 27 020 adults in our laboratory from August 2016 to July 2018,then selected cases with abnormal Hb,investigate the incidence of 4 common abnormal Hb. Retrospective analysis of the hematological parameters and thalassemia gene results,gene sequencing was done for some rare cases. Results:Among all 27 020 cases,211 cases of abnormal Hb were detected,the incidence was 0.78%. Including 95 cases of Hb CS(the carrying rate was 0.35%),43 cases of Hb E(the carrying rate was 0.16%),34 cases of Hb New York(the carrying rate was 0.13%),11 cases of Hb Q-Thailand(the carrying rate was 0.04%),1 case of Hb S compound Hb Zeng-Cheng,1 case of Hb J-Baltimore has not been reported yet in Chinese,and 26 cases of unidentified abnormal Hb. The hematological indices of Hb CS heterozygotes:Hb 124.5±19.2 g/L,MCV 82.0±5.1 fL,MCH 26.4±2.2 pg;The hematological indices of Hb E heterozygotes:Hb 129.0±17.4 g/L,MCV 75.6±4.1 fL,MCH 24.7±1.8 pg;The hematological indices of Hb CS compound α0-thalassemia:64.8±17.3 g/L,MCV 76.4±9.0 fL,MCH 19.6±2.0 pg;one case Hb E compound β-thalassemia and α+-thalassemia:Hb 61 g/L,MCV 58.6 fL,MCH 17.6 pg;The hematological phenotype of Hb E compound Hb CS or α+-thalassemia is normal. Conclusion:Zhongshan region has a high incidence of abnormal Hb. Except for Hb E,Hb CS and Hb Q-Thailand,other abnormal Hb heterozygotes have normal hematological phenotype. Small cell hypochromic anemia can be expressed when abnormal Hb compound thalassemia,the degree of anemia depends on the type of combined thalassemia. Due to the normal hematological phenotype of some Hb CS and Hb E heterozygotes,Hb E combined with Hb CS or α+-thalassemia,while Hb CS combined with α0-thalassemia or Hb E combined with β-thalassemia showed severe anemia,so when a couple has α0-thalassemia or β0-thalassemia,the other should test Hb CS or Hb E to prevent birth of severe Hb H disease and severe β-thalassaemia.
引文
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[2]何静,余小燕,温玮霞,等.广东惠州地区102例异常血红蛋白病分析[J].检验医学与临床,2018,15(14):2049-2051;2054.
[3]温应方,林敏,刘桂荣,等.广东梅州地区的异常血红蛋白的分子流行病学调查[J].重庆医科大学学报,2011,36(12):1496-1499.
[4]马占忠,杨辉,林敏,等.广东韶关地区异常血红蛋白的分子流行病学调查[J].实用检验医师杂志,2014,6(3):179-181.
[5]王婷.广东东莞地区的异常血红蛋白分子流行病学研究[D].广州:广州医科大学,2014:11-25.
[6]李育敏,张水兰,阚丽娟,等.深圳地区异常血红蛋白病的分子特征与表型分析[J].临床检验杂志,2018,36(11):873-875.
[7]Zeng Y.T.and Huang S.Z.,Disorders of haemoglobin in China[J].J Med Genet,1987.24(10):578-83.
[8]张俊武,龙桂芳.血红蛋白与血红蛋白病.广西科学技术出版社,2003,161-201.