作者研究了1例出生时有严重非免疫性溶血性贫血伴胎儿水肿的婴儿。由于不明原因的溶血,他在新生儿期期间需反复输注红细胞。其依赖输血以维持的状况已经持续了两年多。先前的同胞因出生时溶血性贫血和胎儿水肿在生命的第2天死亡。双亲的外周血涂片显示存在有罕见的卵圆细胞。他们的红细胞膜检查显示有力学稳定性的异常,以及血影蛋白结构和功能方面的异常。遗传学研究揭示先证者和他已死的姐姐是由于βδ1血影蛋白纯合子突变所致,L2025R,位于血影蛋白发 The authors studied one infants who were born with severe non-immune hemolytic anemia and fetal edema. Due to an unknown hemolysis, he needs to repeatedly infuse red blood cells during the neonatal period. Its dependence on blood transfusion to sustain it has lasted more than two years. Previous siblings died of hemolytic anemia at birth and fetal edema on the second day of life. Parents of peripheral blood smear shows the presence of rare oval cells. Their examination of erythrocyte membranes showed abnormalities of mechanical stability and abnormalities in the structure and function of spectrin. Genetic studies reveal that the proband and his deceased sister were due to homozygous mutation of βδ1 spectrin, L2025R,