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2例同胞姐弟患严重的隐性遗传性溶血性贫血。红细胞形态大小不一,有椭圆形,小球形,薄红细胞及裂红细胞等异常,其父母系近亲婚配。父母均有轻度的红细胞形态改变,但无明显临床症状。全家人的热溶血试验正常。作者对其中一例作了红细胞膜研究,红细胞膜蛋白4.1减少30%。蛋白3电泳带异常:较浓,较窄及轻度向正极移位,4.1/3比率减少,4.1/4.2比率减少。但即使在溶血状态,其4.1a/4.1b比率仍正常。患者的唾液酸糖蛋白分析和红细胞膜内蛋白分析未见异常。
Two siblings suffering from severe hereditary hemolytic anemia. Erythrocyte morphology varies in size, there are oval, small spherical, thin red blood cells and RBC abnormalities, their parents are close relatives of marriage. Parents have mild changes in red blood cell morphology, but no obvious clinical symptoms. The whole family’s hot hemolysis test is normal. The author made one of the cases of erythrocyte membrane research, reducing erythrocyte membrane protein 4.1 by 30%. Protein 3 electrophoresis band abnormalities: thicker, narrower and mild shift to the positive, 4.1 / 3 ratio decreased, 4.1 / 4.2 ratio decreased. However, the 4.1a / 4.1b ratio remained normal even in hemolytic state. Patients with sialoglycoprotein analysis and erythrocyte membrane protein analysis showed no abnormalities.