Congenital Dyserythropoietic Anaemia, Types I and II: Aberrant Pattern of Erythrocyte Membrane Proteins in CDA II, as Revealed by Two‐dimensional Polyacrylamide Gel Electrophoresis

Abstract

The protein composition of the erythrocyte membrane of 2 patients with CDA[chronic dyserythropoietic anemia]I and 4 patients with CDA II was investigated by 2-dimensional polyacrylamide gel electrophoresis. The 2-dimensional patterns of erythrocyte membrane proteins of the patients with CDA were compared with the well-established pattern of normal individuals. No alterations were detected in the patients with CDA I but a striking deviation from normal was observed in all patients with CDA II. The major aberrations of the erythrocyte membrane proteins in CDA II are the lack of protein B1.1, the drastically increased concentration of protein B1.4 and the presence of a new component, C2''. These results are discussed in relation to the known morphological and immunological abnormalities of the erythrocyte membrane in CDA II.