摘要
目的对基因诊断为异常血红蛋白HbG-Taipei的4例患者进行临床特征分析。方法采集所有患者外周血进行血细胞和血红蛋白电泳分析,应用gap-PCR、PCR结合反向点杂交(PCR-RDB)和DNA测序的方法对外周血提取的DNA进行β珠蛋白基因检测。结果 3例患者为HBB:c.68A>G突变的杂合子,即HbG-Taipei携带者。其红细胞参数表现为完全正常,血红蛋白电泳提示轻度升高的HbA2,可见55.6%～58.2%的HbD异常带;1例为β0-地中海贫血合并HbG-Taipei合并,显示为明显降低的红细胞参数和轻度贫血,以及异常升高的HbF(19.4%)和HbD(67.6%)。结论杂合状态的Hb G-Taipei无贫血等临床症状,只能在血红蛋白电泳中提示有异常血红蛋白时进行基因测序后发现。当此异常血红蛋白合并β-地中海贫血时,可表现为加重的贫血和显著降低红细胞参数。
Objective： To investigate clinical features of 4 cases with abnormal hemoglobin Hb G-Taipei, which were confirmed by gene diagnosis. Methods： Blood cell count and hemoglobin electrophoresis analysis were performed on all the blood samples, Gap-PCR and reverse dot analysis and DNA sequencing were used to detect β-globin gene mutations. Results： 3 cases were identified as heterozygote of Hb G-Taipei, demonstrated normal red blood cell parameters, and hemoglobin analysis showed Hb D around 55.6%-58.2% with low elevated lib A2.While 1 case of Hb G-Talpei was accompanied by β^0-thalassemia, displayed mild anemia, meanwhile showed HbD around 67.6% and significant increased Hb F （19.4%） . Conclusion： Heterozygous Hb G-Taipei has no anemia and other clinical symptoms. It can only be founded in hemoglobin electrophoresis and indicated by gene sequencing. When the abnormal hemoglobin is combined with β-thalassemia, it can be manifested as aggravated anemia and marked reduction of RBC narameters.
作者
王继成
姚翠泽
杜丽
秦丹卿
骆明勇
张艳霞
WANG Ji-cheng;YAO Cui-ze;DU Li;QIN Dan-qing;LUO Ming-yong;ZHANG Yan-xia(Medical Genetics Center,Guangdong Women and Children Health Care Hospital,Guangzhou,Guangdong 511442,P.R.China)
出处
《中国优生与遗传杂志》
2018年第11期18-20,共3页
Chinese Journal of Birth Health & Heredity
基金
广东省省级科技计划项目(2016A020218011)
