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对一例严重贫血患儿进行Hb检测,醋纤薄膜碱性(pH8.5)电泳显示含有一种与HbA_2泳动速度相同的异常Hb;酸性(pH6.5)琼脂电泳排除Hbc及o;用标准HbE及脐血(HbF)为对照作酸及碱性珠蛋白解链试验出现异常β~E及r链,证明它是HbE/β~+地中海贫血双重杂合子。结合临床症状及其它检测诊断为HbE复合β~+地中海贫血病例。家系调查其父为轻型β~+地中海贫血;其母与患儿有相同的异常Hb,为HbE特征。近年来我国对异常Hb及Hb病进行广泛研究,我省某些地区的Hb普查表明在某些人群中的发生率较高,并作了结构分析证实本文报导使用一般实验室所能进行的手段,确诊一例HbE/β~+地中海贫血双重杂合子。
A case of severe anemia in children with Hb detection, vinegar film alkaline (pH8.5) electrophoresis showed a HbA2 with the same migration rate of abnormal Hb; acid (pH6.5) agar electrophoresis to exclude Hbc and o; standard HbE and umbilical cord blood (HbF) as control for acid and alkaline globin fusion test showed abnormal β ~ E and r chain, it is HbE / β ~ + thalassemia heterozygote. Combined with clinical symptoms and other tests diagnosed as HbE complex β ~ + thalassemia cases. Pedigree investigation of his father is light β ~ + thalassemia; its mother and children have the same abnormal Hb, HbE features. In recent years, extensive research on abnormalities of Hb and Hb has been carried out in our country. Hb screening in some areas of our province shows that the incidence is high in some populations and the structural analysis confirms that this article reports the use of general laboratory methods , Confirmed a case of HbE / β ~ + thalassemia double heterozygote.