Abstract
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. Bone Marrow Transplantation (2001) 27, 213–215.
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References
Wong KY, Hug G, Lampkin BC . Congenital dyserythropoietic anemia type II. Ultrastructural and radioautographic studies of blood and bone marrow Blood 1972 39: 23–30
Alloisio N, Texier P, Denoroy L et al. The cisternae decorating the red blood cell membrane in congenital dyserythropoietic anaemia (Type II) originate from the endoplasmicreticulum Blood 1996 87: 4433–4439
Iolascon A, Miraglia del Giudice E, Perrotta S et al. Exclusion of three candidate genes as determinants of congenital dyserithropoietic anemia type II (CDA II) Blood 1997 10: 4197–4200
Gasparini P, Miraglia del Giudice E, Delaunay J et al. Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search Am J Hum Genet 1997 61: 1112–1116
Iolascon A, Perrotta S, Carella M et al. Genetic heterogeneity of congenital dyserythropoietic anemia II (CDA II) Blood 1998 92: 2593–2594
Iolascon A, D'Agostaro G, Perrotta S et al. Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects Haematologica 1996 81: 543–558
Storb R, Deeg HJ, Whitehead J et al. Methotrexate and cyclosporine compared with cyclosporine alone for prophylaxis of acute graft-versus-host disease after marrow transplantation for leukemia New Engl J Med 1986 314: 729–735
Boerwinkle E, Xiong W, Fourest E, Chan L . Rapid typing of tandemly repeated hypervariable loci by the polymerase chain reaction: application to the apolipoprotein B 3′ hypervariable region Proc Natl Acad Sci USA 1989 86: 212–216
Lucarelli G, Galimberti M, Polchi P et al. Marrow transplantation in patients with thalassemia responsive to iron chelation therapy New Engl J Med 1993 329: 840–844
Grigg A, Bardy P, Byron K et al. Fludarabine-based non-myeloablative chemotherapy followed by infusion of HLA-identical stem cells for relapsed leukaemia and lymphoma Bone Marrow Transplant 1999 23: 107–110
Giralt S, Estey E, Albitar M et al. Engraftment of allogeneic hematopoietic progenitor cells with purine analog-containing chemotherapy: harnessing graft-versus-host leukemia without myeloablative therapy Blood 1997 89: 4531–4536
Chan KW, Bekassy AN, Ha CS et al. Fludarabine-based preparative protocol for unrelated cord blood transplantation in children: successful engraftment with minimal toxicity Bone Marrow Transplant 1999 23: 849–851
Amrolia P, Gaspar HB, Hassan A et al. Nonmyeloablative stem cell transplantation for congenital immunodeficiencies Blood 2000 96: 1239–1246
Terenzi A, Aversa F, Perruccio K et al. Efficacy of fludarabine as immunosuppressor for bone marrow transplantation conditioning Blood 1996 88: (Suppl. 1) 596a
Kapelshnik JR, Slavin S, Nagler A . A fludarabine-based protocol for bone marrow transplantation in Fanconi's anaemia Bone Marrow Transplant 1997 20: 1109–1110
Acknowledgements
This work was partly supported by grants from Associazione Italiana Ricerca sul Cancro (AIRC), Consiglio Nazionale delle Ricerche (CNR) and IRCCS Policlinico San Matteo to FL and by a grant from Telethon (project E-645) to AI.
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Iolascon, A., Sabato, V., de Mattia, D. et al. Bone marrow transplantation in a case of severe, type II congenital dyserythropoietic anaemia (CDA II). Bone Marrow Transplant 27, 213–215 (2001). https://doi.org/10.1038/sj.bmt.1702764
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DOI: https://doi.org/10.1038/sj.bmt.1702764
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