congenital dyserythropoietic anemia type IVa

A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13.

Signs and symptoms

• Increased RBC distribution width
• Anemia
• Increased circulating lactate dehydrogenase concentration
• Reticulocytosis
• Weight loss
• Decreased circulating haptoglobin concentration
• Decreased hemoglobin concentration
• Schistocytosis
• Reduced hematocrit
• Anisocytosis

Also known as: CDA IV; CDA due to KLF1 mutation; CDA type 4; CDA type IV; CDAN4