Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II)

Type II congenital dyserythropoietic anaemia (CDA-II or HEMPAS) is an autos omal recessive disorder, representing the most frequent form of congenital dyserythropoiesis. It is characterised by normocytic anaemia, variable jaun dice and hepato-splenomegaly. Gallbladder disease and secondary haemochroma tosis are frequent complications. We report a case characterised by severe transfusion-dependent anaemia. The proband inherited CDA-II in association with beta-thalassaemia trait. Splenectomy did not abolish the transfusion d ependence and this, in association with poor compliance to iron-chelation t herapy, prompted us to consider bone marrow transplantation (BMT) from his HLA-identical sibling. The preparative regimen included busulfan, thiotepa and fludarabine, and graft-versus-host disease prophylaxis consisted of cyc losporin A and short-term methotrexate, Engraftment of donor cells was prom pt and the post-transplant course uncomplicated, The patient is alive and t ransfusion-independent 36 months after allograft, This is the first case of severe CDA-II to undergo BMT. Analysis of this pedigree suggests that inte raction with beta-thalassaemia enhanced the clinical severity of CDA-II, ma king BMT an attractive therapy for patients with transfusion dependence.