ATYPICAL HEREDITARY OVALOCYTOSIS ASSOCIATED WITH DEFECTIVE DYSERYTHROPOIETIC ANEMIA

The cases of a child and his mother affected by chronic anemia with at ypical elliptocytosis are reported. When adolescent the mother underwe nt splenectomy, with an incomplete response. Anemia was characterized by a morphological picture of ovalocytosis associated with a significa nt 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 w ith marked decrease of mature cells and dyserythropoietic features. Re ticulocyte count was rather low. Ferrokinetics showed ineffective eryt hropoiesis. Biochemical studies on red blood cell membrane cytoskeleto n 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 postulat ed the existence of a distinct atypical form of HE associated with ine ffective and dysplastic erythropoiesis.