论文部分内容阅读
两例严重贫血的住院患者,经醋酸纤维薄膜电泳检查,显示其红细胞内含有一种电泳迁移率与HbA_2 相同的异常血红蛋白。经一级结构分析证明为 HbE[β26(B8)Glu→Lys]。结合家系调查、临床表现及血细胞学检查结果,证明第一例的遗传变异来源于母亲,另一例则来自父亲。而且他们的父亲或母亲均有HbA_2 增高,符合轻度β-地中海贫血。因此,确证此两例为见于我省的携有HbE和β-地中海贫血的双重杂合子。从病例1血样纯化的HbE具有与HbA相似的氧平衡特征。
Two inpatients with severe anemia were examined by acetate thin film electrophoresis and showed that the erythrocytes contained an abnormal hemoglobin with the same electrophoretic mobility as HbA_2. Primary structure analysis proved to be HbE [β26 (B8) Glu → Lys]. Combined with pedigree investigation, clinical manifestations and results of blood tests, the first case of genetic variation from the mother, the other case from the father. And their father or mother HbA 2 increased, in line with mild β-thalassemia. Therefore, it is confirmed that these two cases are double heterozygotes carrying HbE and β-thalassemia seen in our province. HbE purified from case 1 blood samples had similar oxygen balance characteristics to HbA.