| 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： |
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| 基金项目: |
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| 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 |
