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 hy- bridization 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） o 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 α-thalassemia.
作者
杜丽
王继成
秦丹卿
黄演林
吴菁
DU Li;WANG Jicheng;QIN Danqing;et al(Clinical Genetics Center, Key Laboratory of Metabolic and Genetic Disease in Women and Children, Guangdong Women and Children HospitaI,Guangzhou Guangdong 511442 ,China)
出处
《实用妇产科杂志》
CAS
CSCD
北大核心
2018年第4期305-308,共4页
Journal of Practical Obstetrics and Gynecology
