congenital dyserythropoietic anemia type II

A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound he

A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23.

Signs and symptoms

• Reticulocytosis
• Endopolyploidy on chromosome studies of bone marrow
• Cholelithiasis
• Anemia of inadequate production
• Jaundice
• Splenomegaly
• Reduced level of N-acetylglucosaminyltransferase II

Also known as: CDA II; CDA type 2; CDA type II; CDAN2; Congenital dyserythropoietic anaemia type 2