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 autosomal recessive disorder, representing the most frequent form of congenital dyserythropoiesis. It is characterised by normocytic anaemia, variable jaundice and hepato-splenomegaly. Gallbladder disease and secondary haemochromatosis 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 dependence and this, in association with poor compliance to iron-chelation therapy, 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 cyclosporin A and short-term methotrexate. Engraftment of donor cells was prompt and the post-transplant course uncomplicated. The patient is alive and transfusion-independent 36 months after allograft. This is the first case of severe CDA-II to undergo BMT. Analysis of this pedigree suggests that interaction with beta-thalassaemia enhanced the clinical severity of CDA-II, making BMT an attractive therapy for patients with transfusion dependence.
Biomedicina dell'Età Evolutiva, Università di Bari, Italy.
A
A
Iolascon
V
V
Sabato
D
D
de Mattia
F
F
Locatelli
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics / Q000628:therapy*; D016026:Bone Marrow Transplantation; D005260:Female; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D014184:Transplantation, Homologous