Congenital dyserythropoietic anemia type 2
Congenital dyserythropoietic anaemia type II is an autosomal recessive disorder characterized by ineffective erythropoiesis. CDA type II is the most frequent congenital dyserythropoietic anaemia, caused by various homozygous or compound heterozygous mutations in the SEC23B gene, resulting in hypoglycosylation of the erythrocyte band three.