Conditions / Genetic

congenital dyserythropoietic anemia type Ib

info ยท Genetic

A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the C15ORF41 gene on chromosome 15q14.

Signs and symptoms

  • Anemia of inadequate production
  • Multinucleated erythroblast
  • Pallor
  • Hepatomegaly
  • Anisocytosis
  • Erythroid hyperplasia
  • Anemia
  • Reticulocytosis
  • Growth delay
  • Jaundice

Also known as: CDA, type Ib; CDAN1B