Fukagawa N, Friedman S, Gill F M, Schwartz E, Shaller C
JAMA. 1979 Jul 6;242(1):63-4.
Two patients in two families had hereditary spherocytosis but lacked a population of RBCs with increased osmotic fragility after incubation. The diagnosis in each patient was confirmed by the presence of splenomegaly, spherocytosis, reticulocytosis, and abnormal autohemolysis corrected by glucose. Sodium flux studies showed increased sodium permeability of the RBC membrane in one patient and normal permeability in another. Hereditary spherocytosis was also present in three other family members of patient 2. The autohemolysis test is of value in confirming the diagnosis in patients with hereditary spherocytosis and normal incubated osmotic fragility.
两个家族中的两名患者患有遗传性球形红细胞增多症，但孵育后缺乏一群渗透脆性增加的红细胞。每位患者均通过脾肿大、球形红细胞增多、网织红细胞增多以及葡萄糖纠正的异常自身溶血确诊。钠通量研究显示，一名患者的红细胞膜钠通透性增加，另一名患者的通透性正常。患者2的另外三名家族成员也患有遗传性球形红细胞增多症。自身溶血试验对于确诊遗传性球形红细胞增多症且孵育后渗透脆性正常的患者具有重要价值。
