Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a

Pediatr Blood Cancer. 2018 Mar;65(3). doi: 10.1002/pbc.26866. Epub 2017 Oct 19.


The congenital dyserythropoietic anemias (CDAs) are a group of rare inherited blood disorders characterized by ineffective erythropoiesis as the principal cause of anemia. We present a child with CDA 1b-the rarest and least well-described type-due to a mutation in the C15orf41 gene. The patient presented with severe in utero and neonatal manifestations, typical peripheral limb anomalies as well as rarely reported cardiac manifestations, visual impairment, short stature, and hip dysplasia. Anemia was complicated by iron overload and pronounced extra medullary erythropoiesis leading to skull deformities. The patient responded to treatment with pegylated interferon alfa-2a.

Keywords: congenital dyserythropoietic anemia; congenital dyserythropoietic anemia type 1b; interferon; pegylated interferon.

MeSH terms

  • Anemia, Dyserythropoietic, Congenital* / diagnostic imaging
  • Anemia, Dyserythropoietic, Congenital* / drug therapy
  • Anemia, Dyserythropoietic, Congenital* / genetics
  • Hematopoiesis, Extramedullary / drug effects*
  • Humans
  • Infant, Newborn
  • Interferon alpha-2 / administration & dosage*
  • Iron Overload* / diagnostic imaging
  • Iron Overload* / drug therapy
  • Iron Overload* / genetics
  • Male
  • Mutation*
  • Skull / abnormalities
  • Skull / diagnostic imaging


  • Interferon alpha-2