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

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Gγy+(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Gγy+(Aγyδβ)0地中海贫血60例,其中中国型Gγy+(Aγδβ)0/βN地中海贫血52例,中国型Gγy+(Aγβ)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、HbF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/βN with 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/βN 、4 cases of SEA-HPFH/βN with 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 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.