Conditions / Genetic
congenital dyserythropoietic anemia type Ia
info · Genetic
A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2.
Signs and symptoms
- Schistocytosis
- Hepatomegaly
- Erythroid hyperplasia
- Small for gestational age
- Hyperbilirubinemia
- Hemolytic anemia
- Bite cells
- Increased circulating lactate dehydrogenase concentration
- Mild postnatal growth retardation
- Macrocytic dyserythropoietic anemia
Also known as: CDA Ia; CDAN1A