Jankovic M, Sansone G, Conter V, Iolascon A, Masera G
Pediatric Clinic, University of Milan, Hospital S. Gerardo, Monza, Italy.
Acta Haematol. 1993;89(1):35-7. doi: 10.1159/000204480.
The cases of a child and his mother affected by chronic anemia with atypical elliptocytosis are reported. When adolescent the mother underwent splenectomy, with an incomplete response. Anemia was characterized by a morphological picture of ovalocytosis associated with a significant percentage of spherocytes in the peripheral blood of the child and spiculated red cells in that of the splenectomized mother. Bone marrow aspirates of the child showed a striking erythropoietic hyperplasia with marked decrease of mature cells and dyserythropoietic features. Reticulocyte count was rather low. Ferrokinetics showed ineffective erythropoiesis. Biochemical studies on red blood cell membrane cytoskeleton showed that beta-spectrin, alpha-spectrin and protein 4.1, which are usually altered in hereditary elliptocytosis (HE), were normal in our cases. This report confirms the hypothesis of Torlontano who postulated the existence of a distinct atypical form of HE associated with ineffective and dysplastic erythropoiesis.
报道了一名儿童及其母亲患慢性贫血伴非典型椭圆形红细胞增多症的病例。母亲在青少年时期接受了脾切除术，反应不完全。贫血的特征是椭圆形红细胞增多的形态学表现，患儿外周血中有相当比例的球形红细胞，脾切除术后的母亲外周血中有棘状红细胞。患儿的骨髓穿刺显示出显著的红细胞生成增生，成熟细胞明显减少并有红细胞生成异常的特征。网织红细胞计数相当低。铁动力学显示红细胞生成无效。对红细胞膜细胞骨架的生化研究表明，通常在遗传性椭圆形红细胞增多症（HE）中发生改变的β-血影蛋白、α-血影蛋白和4.1蛋白，在我们的病例中是正常的。本报告证实了Torlontano的假设，他推测存在一种与无效和发育异常的红细胞生成相关的独特非典型形式的HE。
