Treatment of Transfusion Dependent Congenital Dyserythropoietic Anemia type I Patients with Pegylated Interferon alpha 2a.

OBJECTIVE: Pegylated IFN alpha2a 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 alfa 2a at an initial dose of 90-180mcg once a week, tapered according to clinical response and side effects. Good response was defined as Hb >/= 10gr/dL for >/= three months, Partial response was defined as 7 /= three months, and no response was defined as HB /= 10g/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 alpha2a therapy is efficacious in CDA-I patients with a reasonable safety profile.