Congenital dyserythropoietic anaemia: Report of three cases

Abstract

Between January 1985 and June 1992, the Paediatric Department of Hospital Universiti Sains Malaysia has diagnosed congenital dyserythropoietic anaemia in three children, two of whom were siblings. The age of onset ranged from 1 to 3 years. All of them became transfusion-dependent before the age of 4 months. One of them was successfully treated with bone marrow transplantation.

Advances in the understanding of the congenital dyserythropoietic anaemias

“…Successful treatment using human leucocyte antigen (HLA)‐matched allogeneic haemopoietic stem cell transplantation has been reported in a few severely affected cases of CDA. These include a case of transfusion‐dependent CDA type I (Ayas et al , 2002), a patient with CDA type II associated with β ‐thalassaemia trait (Iolascon et al , 2001b), a case of variant CDA type II with a negative Ham test (Remacha et al , 2002) and a patient with an incompletely documented form of CDA (Ariffin et al , 1996).…”

Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II

“…This patient received ATG and CyA for GVHD prophylaxis . According to our experience and review of the literature , in HSCT from a matched sibling donor, conditioning with busulfan, cyclophosphamide and ATG is a safe and effective option even in patients with CDA risk classified as Class III, according to Lucarelli Classification . This conditioning was well tolerated in our patient.…”

“…Another five‐yr‐old patient with CDA has been reported to need second transplantation after initial conditioning with busulfan and cyclophosphamide, and the second HSCT was conditioned with busulfan, cyclophosphamide, melphalan, and ATG. The patient has been reported as alive and transfusion independent after second transplantation . Besides these six patients reported by four centers who were transplanted from HLA‐matched sibling donors , there are two recent reports of successful HSCT in patients with CDA type II from HLA‐matched unrelated donors .…”

“…The patient has been reported as alive and transfusion independent after second transplantation . Besides these six patients reported by four centers who were transplanted from HLA‐matched sibling donors , there are two recent reports of successful HSCT in patients with CDA type II from HLA‐matched unrelated donors . The first patient who underwent unrelated HSCT was conditioned intensively with azathioprine, fludarabine, busulfan, thiotepa, and cyclophosphamide .…”

“…However, the only curative treatment for patients with CDA is HSCT . There is scarce data in the reported literature on the use of HSCT as a therapeutic and curative option in patients with CDA . Herein, we report a five‐yr six‐month‐old girl with CDA II who had compound heterozygous mutations in SEC23B gene and was successfully transplanted from a matched sibling donor.…”