title: Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.
abstract: Congenital dyserythropoietic anemias are rare hematological disorders leading to ineffective erythropoiesis with chronic anemia, complicated by iron overload. Here we present a remarkable clinical course of an infant with CDA type II who first presented as a severe fetal hydrops, requiring serial intrauterine red cell transfusions. While postnatal transfusion dependency persisted, the patient was successfully transplanted with a myeloablative conditioning regimen and peripheral blood stem cells of a matched donor. We believe that allogeneic HSCT is a reasonable therapeutic approach for patients with very severe CDA, even if only a matched unrelated donor is available.
authors.affiliation: Pediatric Hematology and Oncology, Pediatric Stem Cell Transplantation Program, University Children's Hospital Wuerzburg, Wuerzburg, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Braun
authors.forename: M
authors.initials: M
authors.lastname: Wölfl
authors.forename: V
authors.initials: V
authors.lastname: Wiegering
authors.forename: B
authors.initials: B
authors.lastname: Winkler
authors.forename: K
authors.initials: K
authors.lastname: Ertan
authors.forename: R
authors.initials: R
authors.lastname: Bald
authors.forename: K
authors.initials: K
authors.lastname: Schwarz
authors.forename: H
authors.initials: H
authors.lastname: Heimpel
authors.forename: M
authors.initials: M
authors.lastname: Eyrich
authors.forename: P G
authors.initials: PG
authors.lastname: Schlegel
mesh_terms: D000742:Anemia, Dyserythropoietic, Congenital / Q000628:therapy*; D001805:Blood Transfusion, Intrauterine; D003131:Combined Modality Therapy; D005260:Female; D006801:Humans; D007223:Infant; D011247:Pregnancy; D011379:Prognosis; D033581:Stem Cell Transplantation; D019172:Transplantation Conditioning
keywords: CDA; congenital dyserythropoietic anemia type II; fetal hydrops; unrelated HSCT