Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload

Abstract

CDA is a heterogeneous group of disorders that result in morphologically abnormal erythroid maturation and ineffective erythropoiesis. Curative therapy for CDA focuses on the use of HSCT using fully matched sibling donors. This is the first report of a Type II CDA patient with severe iron overload who was successfully treated with HSCT using a HLA-matched unrelated donor after aggressive chelation therapy. Given the challenges of HSCT in any patient with CDA and severe iron overload, the role of novel approaches to iron chelation and HSCT is discussed.

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations

“…To date, 454 cases from 356 families have been registered worldwide (Heimpel et al, 2010a). Bone marrow transplantation may be indicated in selected cases Remacha et al, 2002;Fermo et al, 2010;Buchbinder et al, 2012;Unal et al, 2014;Modi et al, 2015;Gambale et al, 2016). CDAs are iron loading anaemias; in severe cases iron overload may be aggravated by regular transfusions and is the main cause of morbidity and mortality.…”

A case of congenital dyserythropoietic anemia type IV

“…Therapies for CDA patients are red cell transfusions, iron chelation to prevent organ damage, splenectomy to abrogate transfusion requirements, or special therapies such as interferon‐α in CDA I patients or stem cells transplantation in severe cases of CDA .…”

Transfusion independence after repeated haploidentical hematopoietic cell transplants in a patient with congenital dyserythropoietic anemia type II and hemosiderosis

“…handful of case reports have been published on use of HCT for CDA, which include one adult and 12 pediatric patients [2][3][4][5][6][7][8][9][10][11][12]. All of the pediatric cases were younger than our patient at the time of HCT, with the majority being under 5 years old.…”