广西医科大学学报2017，Vol.34Issue(5)：698-702,5.DOI:10.16190/j.cnki.45-1211/r.2017.05.015
珠蛋白基因Gγ-158C＞T纯合子突变导致nd-HPFH的研究
Research on homozygous Gγ-158C＞T mutation causing non-deletional hereditary persissten fetal hemoglobin
摘要
Abstract
Objective:To investigate the genotypes and clinical features of the Gγ-158C＞T homozygous mutation causing non-deletional hereditary persistence of fetal hemoglobin (nd-HPFH) and the features when compounded with thalassemia.Methods:90 cases with fetal hemoglobin (Hb F) level ≥4.00％ were involved in this study from January to December 2016 at the First Affiliated Hospital of Guangxi Medical University.Hemoglobin (Hb) analysis were quantitated by high performance liquid chromatography.Genotypes of thalassemia were analyzed by reverse dot blot hybridization and gap-PCR.The mutations on γ-glo bin gene were detected by DNA sequencing.Results:Among 90 cases,5 cases were identified as homozygous Gγ-158C＞T mutation.In which,2 cases were compounded with α-thalassemia,Hb Constant Spring and SEA deletional α-thalassemia respectively.And 1 case compounded with β-thalassemia (βcD27/28/βN).The blood test showed the Hb lever from 96.00 g/L to 169.80 g/L,mean corpuscular volume (MCV) level from 62.63 fL to 95.36 fL and mean corpuscular hemoglobin (MCH) level from 19.00 pg to 32.95 pg.Hb analysis showed the homozygous Gγ-158C＞T mutation caused elevated Hb F level ranging from 4.00％ to 97.30％.The Hb A2 levels in 5 cases were normal or decreased,ranging from 1.50％ to 2.80％.Conclusion:Homozygous Gγ-158C ＞ T mutation on γ-globin gene may cause nd-HPFH.It had no obvious clinical symptoms,but with elevated Hb F level,normal or decreased Hb A2 level,normal or lower level of Hb,MCV and MCH.When homozygous Gγ-158C＞T mutation compounded with α-thalassemia,the blood test showed that the Hb,MCV and MCH were lower than those of simple homozygous mutation cases.We also found that when homozygous Gγ-158C＞T compounded with β-thalassemia,it led to normal level of Hb A2,significantly elevated Hb F and normal or lower level of Hb,MCV and MCH.This suggested it is easy to misdiagnose without genetic analysis.关键词
基因突变/nd-HPFH/地中海贫血Key words
gene mutation/non-deletional hereditary persistence of fetal hemoglobin/thalassemia分类
医药卫生引用本文复制引用
黄欣,陈萍,林伟雄,陈文强,李树全,杨德寨,肖璇,谢湘芝..珠蛋白基因Gγ-158C＞T纯合子突变导致nd-HPFH的研究[J].广西医科大学学报,2017,34(5):698-702,5.基金项目
国家自然科学基金资助项目(No.81260101) （No.81260101）
科技部科技支撑计划基金资助项目(No.2012BAI09B01) （No.2012BAI09B01）
