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22 March 2017


Haematologists have reported the first known case of a patient with congenital dyserythropoietic anaemia being cured with an allogeneic hematopoietic stem cell transplant.

This inherited condition causes ineffective erythropoiesis. It involves abnormal marrow morphology and genetic mutations. Patients can be heavily dependent on transfusions.

Dr Damiano Rondelli of the University of Illinois at Chicago, USA, wrote in Bone Marrow Transplantation on Monday (20 March), that: 'To our knowledge, allogeneic hematopoietic stem cell transplant has never been reported in adult congenital dyserythropoietic anaemia patients.

'Here we report the first adult patient cured of congenital dyserythropoietic anaemia by means of a matched unrelated donor non-myeloablative allogeneic stem cell transplant utilising post-transplant high-dose cyclophosphamide as graft-versus-host-disease prophylaxis.'

This technique avoids the use of high-dose chemotherapy and radiation in preparation for the stem cell transplant. It allowed the transplanted cells to take over the patient's bone marrow without the need for toxic agents to eliminate the patient's own cells before the transplant.

Dr Rondelli says this method can be used even in patients who have suffered from the disorder for a long time, and may have organ damage.

He says: 'For many adult patients with a blood disorder, treatment options have been limited because they are often not sick enough to qualify for a risky procedure, or they are too sick to tolerate the toxic drugs used alongside a standard transplant.

'This procedure gives some adults the option of a stem cell transplant which was not previously available. It may represent a safe therapeutic strategy to treat adult patients with many types of congenital anaemias - perhaps the only possible cure.'

Source: Oh, A. et al. Non-myeloablative allogeneic stem cell transplant with post-transplant cyclophosphamide cures the first adult patient with congenital dyserythropoietic anemia. Bone Marrow Transplantation 20 March 2017 doi: 10.1038/bmt.2017.17

Link: http://www.nature.com/bmt/journal/vaop/ncurrent/full/bmt201717a.html


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