congenital dyserythropoietic anemia type IIIa

A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in het

A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow and that has_material_basis_in heterozygous mutation in the KIF23 gene on chromosome 15q23.

Signs and symptoms

• Decreased circulating haptoglobin concentration
• Increased circulating lactate dehydrogenase concentration
• Multinucleated erythroblast
• Anemia of inadequate production
• Hemosiderinuria
• Macrocytic anemia
• Jaundice
• Congenital hypoplastic anemia

Also known as: CDA III; CDA type 3; CDA type III; CDAN3; Congenital dyserythropoietic anaemia type 3