Genetic Analysis of Congenital Dyserythropoietic Anemia

Twenty-eight CDA II patients (15 males and 13 females) from 21 unrelated families enrolled in the CDA II International Registry were investigated (Supporting Information Table Is). The diagnosis of CDA II was based on the presence of mild to moderate anemia, ineffective erythropoiesis, and morphological abnormalities of the erythroblasts in the bone marrow. Confirmation of the diagnosis was made by mutation screening of the SEC23B gene or at least one of the following analyses: the revelation of the typical narrower band size and faster migration of the band 3 and band 4.5 proteins at SDS-PAGE; the demonstration of superficial appearance of reticulum-endothelial proteins (calreticulin, glucose regulated protein 78, protein disulphide isomerase) on membrane proteins by Western blot (WB) analysis; the presence of a discontinuous double membrane in mature erythroblasts by electron microscopy (EM) [5 (link)].
After signed informed consent, blood was obtained for genetic analysis from the probands. Blood from healthy control subjects was obtained after signed consent according to the Declaration of Helsinki. This project was approved by local ethical committee (University Federico II).