Article
Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a.
Pediatric blood & cancer - 1 Mar 2018
Rathe Mathias, Møller Michael Boe, Greisen Pernille Wied, Fisker Niels
Abstract excerpt
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...
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