期刊
BONE MARROW TRANSPLANTATION
卷 27, 期 2, 页码 213-215出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.bmt.1702764
关键词
dyserythropoiesis; CDA; congenital dyserythropoietic anaemia type II; anaemia; bone marrow transplantation; iron overload
资金
- Telethon [E.0645] Funding Source: Medline
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.
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