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本文报道了一例祖籍是上海市宝山县的遗传性青紫的病人,家系调查中发现,此病至少遗传了四代。应用醋酸纤维薄膜电泳能从患者溶血液中分离出一种快速异常的血红蛋白。通过血红蛋白理化性质测定和结构分析,证实其α链N端第87位的组氨酸被酪氨酸替代,即血红蛋白MIwate[α87(F8)His→Tyr]。该例异常血红蛋白在中国属首次报道。
This article reports a case of ancestral origin of Baoshan County, Shanghai hereditary purple patients, the family survey found that the disease has been inherited at least four generations. Acetate-coated thin-film electrophoresis separates a rapidly abnormal hemoglobin from the patient’s hemolysis. The physical and chemical properties of hemoglobin and structural analysis confirmed that histidine 87 at the N-terminal of tyrosine was replaced by tyrosine, ie, hemoglobin MIwate [α87 (F8) His → Tyr]. This case of abnormal hemoglobin is the first report in China.