Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a

Eur J Haematol. 2020 Aug;105(2):216-222. doi: 10.1111/ejh.13428. Epub 2020 May 19.


Objective: Pegylated IFN-α2a has been reported in two case reports as being efficacious in treating CDA-I patients. This study aims to assess its efficacy on a series of CDA-I patients.

Methods: Study sample consisted of seven CDA type 1 transfusion-dependent patients. They received pegylated interferon alpha-2a at an initial dose of 90-180 µg once a week, tapered according to clinical response and side effects. Good response was defined as Hb ≥ 10 g/dL for ≥3 months, partial response was defined as 7 ≤ Hb<10 g/dL for ≥3 months, and no response was defined as HB < 7 g/dL for over 3 months on treatment. Time to response was defined as the time needed to achieve hemoglobin levels ≥ 10 g/dL without transfusion. Patients were evaluated periodically by abdominal ultrasounds to rule out liver adenomas.

Results: Five patients (71%) had a good response to treatment. One patient stopped treatment due to side effects. One patient had partial response. One patient, with more severe phenotype and poor compliance, had poor response to treatment. No abnormal findings were found in ultrasound examination. No effect on serum ferritin level could be established.

Conclusion: Pegylated interferon α2a therapy is efficacious in CDA-I patients with a reasonable safety profile.

Keywords: blood transfusions; congenital dyserythropoietic anemia; pegasys; pegylated interferon alfa-2a.

MeSH terms

  • Adolescent
  • Anemia, Dyserythropoietic, Congenital / complications
  • Anemia, Dyserythropoietic, Congenital / diagnosis*
  • Anemia, Dyserythropoietic, Congenital / etiology
  • Anemia, Dyserythropoietic, Congenital / therapy*
  • Biomarkers
  • Blood Transfusion
  • Child
  • Child, Preschool
  • Combined Modality Therapy
  • Disease Management
  • Erythrocyte Indices
  • Female
  • Humans
  • Interferon-alpha / administration & dosage
  • Interferon-alpha / adverse effects
  • Interferon-alpha / therapeutic use*
  • Iron Overload / diagnosis
  • Iron Overload / etiology
  • Male
  • Phenotype
  • Polyethylene Glycols / administration & dosage
  • Polyethylene Glycols / adverse effects
  • Polyethylene Glycols / therapeutic use*
  • Recombinant Proteins / administration & dosage
  • Recombinant Proteins / adverse effects
  • Recombinant Proteins / therapeutic use
  • Treatment Outcome


  • Biomarkers
  • Interferon-alpha
  • Recombinant Proteins
  • Polyethylene Glycols
  • peginterferon alfa-2a