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

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

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.

Original languageEnglish
Article numbere26866
JournalPediatric Blood & Cancer
Volume65
Issue number3
Number of pages3
ISSN1545-5009
DOIs
Publication statusPublished - 2018

Keywords

  • Journal Article

Fingerprint

Dive into the research topics of 'Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a'. Together they form a unique fingerprint.

Cite this