Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II

Abstract

CDA are a group of inherited, rare diseases that are characterized by dyserythropoiesis and ineffective erythropoiesis associated with transfusion dependency in approximately 10% of cases. For these latter patients, the only curative treatment is HSCT. There are very limited data on HSCT experience in this rare disease. Herein, we report a five-yr six-month-old girl with compound heterozygous mutations in SEC23B gene, who was diagnosed to have CDA type II and underwent successful HSCT from her matched sibling donor.

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.…”

“…Therapy consists of red cell transfusions (mostly occasional), iron chelation and splenectomy. 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). The phenotype of CDAII is defined by laboratory evidence of ineffective erythropoiesis and haemolysis and by characteristic morphological abnormalities of bone marrow erythroblasts seen in light (Heimpel & Wendt, 1968;Heimpel et al, 2010b) and electron microscopy (Heimpel et al, 1971;Wickramasinghe et al, 1978;Wickramasinghe, 1998).…”

Clinical and genetic features of congenital dyserythropoietic anemia (CDA)

“…18,19,[35][36][37] Therapies for CDA patients depend on the severity of anemia and consist of stem cell transplantation, iron chelation to prevent organ damage, splenectomy to abrogate transfusion requirements or special therapies such as interferonα 48,49 or stem cell transplantation in severe cases of CDA. [50][51][52][53][54][55][56][57][58] Conclusions: New technologies for genetic studies will help to find variants in other genes, in addition to those known, that contribute to or modulate the CDA phenotype or support the correct diagnosis. Table 1).…”

Retrospective cohort study of 205 cases with congenital dyserythropoietic anemia type II: Definition of clinical and molecular spectrum and identification of new diagnostic scores

“…The prevalence of CDA II in Europe shows substantial variations between different countries , but it exhibited the highest value in Italy, where a founder effect has been demonstrated . To date, 66 different mutations in 142 unrelated cases have been reported .…”