Wiley J S, Gill F M
Blood. 1976 Feb;47(2):197-210.
A child with congenital hemolytic anemia, extreme microcytosis and bizarre red cell morphology has been studied. Splenectomy at the age of 21 mo greatly improved the hemolytic anemia, although red cell morphology was unchanged. Aniso- and poikilocytosis were marked on a stained smear, and there were many small hyperchromatic cells of irregular shape. The MCV of 25 cu mu was very low and the MCHC was normal. Osmotic fragility of fresh blood was increased, and postsplenectomy blood showed a fraction of extremely fragile cells. Concentration and fluxes of Na+ and K+ were normal, except K+ efflux, which was stimulated by external Ca2+. Inward Ca2+ movement into the patient's red cells was elevated three- to fourfold above red cells of the same mean age. Red cell Ca2+ concentration was raised 2.5 times normal and most of the Ca2+ was localized in the stroma. Red cell lipid, sialic acid, and ouabain-binding sites, all per milliliter of cells, were increased by 16%-23%, and, since these substances estimate the amount of membrane, it was likely that Ca2+ content per unit of membrane area was at least twice normal. Deformability of the cells, as judged by their filterability was markedly impaired. It was concluded that the red cell membrane was defective, and an increased membrane Ca2+ content was associated with reduced deformability, hemolysis, and distorted red cell morphology in this syndrome.
对一名患有先天性溶血性贫血、极度小红细胞症和异常红细胞形态的儿童进行了研究。该患儿在21个月大时接受了脾切除术，尽管红细胞形态未改变，但溶血性贫血得到了显著改善。染色涂片上可见明显的异形红细胞症和红细胞大小不均，并有许多形状不规则的小嗜多染性细胞。平均红细胞体积（MCV）为25立方微米，非常低，而平均红细胞血红蛋白浓度（MCHC）正常。新鲜血液的渗透脆性增加，脾切除术后的血液中显示出一部分极度脆弱的细胞。除钾外流受细胞外钙离子刺激外，钠和钾的浓度及通量均正常。患儿红细胞内钙离子内流比相同平均年龄的红细胞高出三到四倍。红细胞钙离子浓度升高至正常水平的2.5倍，且大部分钙离子定位于基质中。每毫升细胞中的红细胞脂质、唾液酸和哇巴因结合位点均增加了16%-23%，由于这些物质可估算膜的量，因此每单位膜面积的钙离子含量可能至少是正常水平的两倍。通过滤过性判断，细胞的变形性明显受损。得出的结论是，该综合征中红细胞膜存在缺陷，膜钙离子含量增加与变形性降低、溶血及红细胞形态异常有关。
