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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
杜丽;王继成;秦丹卿;黄演林;吴菁;
0
(广东省妇幼保健院医学遗传中心广东省妇幼代谢与遗传病重点实验室)
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/βN地中海贫血52例,中国型Gγ+(Aγδβ)0/βN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/βN25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HbA2、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。
关键词:  中国型Gγ+(Aγδβ)0地中海贫血  东南亚型遗传性持续性胎儿血红蛋白增高症  遗传咨询  基因诊断
DOI:
基金项目:
Hematologic Characterization and Genetic Counseling of Chinese ~Gγ~+(~Aγδβ)~0-Thalassemia and SEA-HPFH
DU Li;WANG Jicheng;QIN Danqing
(Clinical Genetics Center,Key Laboratory of Metabolic and Genetic Disease in Women and Children,Guangdong Women and Children Hospital)
Abstract:
Objective: To investigate the hematologic characterization of ChineseGγ+(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 ChineseGγ+(Aγδβ)0-thalassemia and SEA-HPFH,and analyzed the hematological datas.Results: 60 cases of ChineseGγ+(Aγδβ)0-thalassemia were detected,including 52 cases of ChineseGγ+(Aγδβ)0/βN、3 cases of ChineseGγ+(Aγδβ)0/βNwith α-thalassemia and 5 cases of ChineseGγ+(Aγδβ)0 accompanied by β-thalassemia.32 cases of SEA-HPFH were detected,including 25 cases of SEA-HPFH/βN、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 HbA2,Hb F between ChineseGγ+(Aγδβ)0-thalassemia carriers and SEA-HPFH carriers( P<0. 001).Conclusions: The ChineseGγ+(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
Key words:  ChineseGγ+(Aγδβ)0-thalassemia  SoutheastAsiahereditarypersistenceoffetalhemoglobin(SEA-HPFH)  Geneticcounseling  Genediagnosis

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