中国型~Gγ~+(~Aγδβ)~0地中海贫血及东南亚型HPFH的临床表型研究及遗传咨询
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摘要
目的:分析中国型~Gγ~+(~Aγδβ)~0地中海贫血和东南亚型遗传性持续性胎儿血红蛋白增高症(SEA-HPFH)的临床特征,为遗传咨询提供指导。方法:对在我院就诊基因诊断确诊的中国型~Gγ~+(~Aγδβ)~0地中海贫血和东南亚型SEA-HPFH病例进行血常规、血红蛋白电泳分析,研究其临床表型,并进行统计学分析。结果:检出中国型~Gγ~+(~Aγδβ)~0地中海贫血60例,其中中国型~Gγ~+(~Aγδβ)~0/β~N地中海贫血52例,中国型~Gγ~+(~Aγδβ)~0/β~N复合α地中海贫血有3例,中国型~Gγ~+(~Aγδβ)~0地中海贫血复合β地中海贫血引起的中重型β地中海贫血有5例。检出东南亚型SEA-HPFH病例32例,其中SEA-HPFH/β~N25例,SEA-HPFH/βN复合α地中海贫血4例,SEA-HPFH复合β地中海贫血引起的中间型β地中海贫血3例。中国型~Gγ~+(~Aγδβ)~0地中海贫血杂合子与SEA-HPFH杂合子的MCV、MCH及HbA_2、Hb F水平差异有统计学意义(P<0.001)。结论:在中国人群中中国型~Gγ~+(~Aγδβ)~0地中海贫血和东南亚型SEA-HPFH是比较常见的β珠蛋白基因簇缺失类型,两者之间的血液学指标有统计学差异,临床表型分析可以为遗传咨询和产前诊断提供指导。
Objective: To investigate the hematologic characterization of Chinese~Gγ~+(~Aγδβ)~0-thalassemia and Southeast Asia hereditary persistence of fetal hemoglobin( SEA-HPFH).Methods: Whole blood cell analysis,capillary zone electrophoresis( CZE),gap polymerase chain reaction and PCR-flow cytometry fluorescence hybridization assay were performed to the individuals with Chinese~Gγ~+(~Aγδβ)~0-thalassemia and SEA-HPFH,and analyzed the hematological datas.Results: 60 cases of Chinese~Gγ~+(~Aγδβ)~0-thalassemia were detected,including 52 cases of Chinese~Gγ~+(~Aγδβ)~0/βN、3 cases of Chinese~Gγ~+(~Aγδβ)~0/β~Nwith α-thalassemia and 5 cases of Chinese~Gγ~+(~Aγδβ)~0 accompanied by β-thalassemia.32 cases of SEA-HPFH were detected,including 25 cases of SEA-HPFH/β~N、4 cases of SEA-HPFH/βNwith α-thalassemia and 3 cases of SEA-HPFH accompanied by β-thalassemia.There were statistically significant differences in MCV,MCH and the level of HbA_2,Hb F between Chinese~Gγ~+(~Aγδβ)~0-thalassemia carriers and SEA-HPFH carriers( P<0. 001).Conclusions: The Chinese~Gγ~+(~Aγδβ)~0-thalassemia and SEA-HPFH are not rare in Chinese.Hematologic characterizations of the two group are statistically significant different.Our findings will be useful in genetic counseling and prenatal diagnostic service of β-thalassemia.
Objective: To investigate the hematologic characterization of Chinese~Gγ~+(~Aγδβ)~0-thalassemia and Southeast Asia hereditary persistence of fetal hemoglobin( SEA-HPFH).Methods: Whole blood cell analysis,capillary zone electrophoresis( CZE),gap polymerase chain reaction and PCR-flow cytometry fluorescence hybridization assay were performed to the individuals with Chinese~Gγ~+(~Aγδβ)~0-thalassemia and SEA-HPFH,and analyzed the hematological datas.Results: 60 cases of Chinese~Gγ~+(~Aγδβ)~0-thalassemia were detected,including 52 cases of Chinese~Gγ~+(~Aγδβ)~0/βN、3 cases of Chinese~Gγ~+(~Aγδβ)~0/β~Nwith α-thalassemia and 5 cases of Chinese~Gγ~+(~Aγδβ)~0 accompanied by β-thalassemia.32 cases of SEA-HPFH were detected,including 25 cases of SEA-HPFH/β~N、4 cases of SEA-HPFH/βNwith α-thalassemia and 3 cases of SEA-HPFH accompanied by β-thalassemia.There were statistically significant differences in MCV,MCH and the level of HbA_2,Hb F between Chinese~Gγ~+(~Aγδβ)~0-thalassemia carriers and SEA-HPFH carriers( P<0. 001).Conclusions: The Chinese~Gγ~+(~Aγδβ)~0-thalassemia and SEA-HPFH are not rare in Chinese.Hematologic characterizations of the two group are statistically significant different.Our findings will be useful in genetic counseling and prenatal diagnostic service of β-thalassemia.
引文
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[2]He S,Wei Y,Lin L,et al.The prevalence and molecular characterization of(δβ)0-thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population[J].J Clin Lab Anal,2017:e22304.
[3]So CC,So AC,Chan AY,et al.Detection and characterisation of beta-globin gene cluster deletions in Chinese using multiplex ligation-dependent probe amplification[J].J Clin Pathol,2009,62(12):1107-1111.
[4]徐湘民主编.地中海贫血预防控制操作指南[M].北京:人民军医出版社,2011:111-115.
[5]Aihua Y,Bing L,Mingyong L,et al.The prevalence and molecular spectrum ofα-andβ-globin gene mutations in 14,332 families of Guangdong province,China[J].PLo S One,2014,9(2):e89855.
[6]Changsri K,Akkarapathumwong V,Jamsai D,et al.Molecular mechanism of high hemoglobin F production in Southeast Asian-type hereditary persistence of fetal hemoglobin[J].Int J Hematol,2006,83(3):229-237.
[7]曾小红,朱宝生.遗传性持续性胎儿血红蛋白增高症(HPFH)的分子机制[J].中国产前诊断杂志(电子版),2012,4(2):26-30.
[8]Chen W,Zhang X,Shang X,et al.The molecular basis of beta-thalassemia intermedia in southern China:genotypic heterogeneity and phenotypic diversity[J].BMC Med Genet,2010,11:31.
[9]王春芳,韦传东,雷茗,等.Gγ+(Aγδβ)0地中海贫血复合β地中海贫血家系的表型与基因型分析的警示[J].中国儿童保健杂志,2015,23(11):1191-1193.
[10]逄婷,郭仲辉,黄俊杰,等.东南亚型HPFH的突变检测及临床特征分析[J].中国优生与遗传杂志,2016,24(12):24-26.
[11]Carrocini GC,Zamaro PJ,Bonini-Domingos CR.What influences Hb fetal production in adulthood[J].Rev Bras Hematol Hemoter,2011,33(3):231-236.
[12]Manca L,Masala B.Disorders of the synthesis of human fetal hemoglobin[J].Iubmb Life,2008,60(2):94-111.