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

A. Iolascon, V. Sabato, D. De Mattia, F. Locatelli

Research output: Contribution to journalArticlepeer-review

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 pro-band 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.

Original languageEnglish
Pages (from-to)213-215
Number of pages3
JournalBone Marrow Transplantation
Volume27
Issue number2
DOIs
Publication statusPublished - 2001

Keywords

  • Anaemia
  • Bone marrow transplantation
  • CDA
  • Congenital dyserythropoietic anaemia type II
  • Dyserythropoiesis
  • Iron overload

ASJC Scopus subject areas

  • Hematology
  • Transplantation

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