AKS CHIANG MBChB(Manc), PhD, FHKAM(Paed)

Abstract Fanconi anaemia (FA) is an important cause of inherited aplastic anemia in childhood because of its relatively high frequency of occurrence, the implication for different management, and the need for genetic counselling. The common manifestations are congenital physical abnormalities, marrow failure, and predisposition to development of cancers. Bone marrow transplantation has been used to treat marrow failure for FA patients but they are at increased risks of transplant related toxicities and graft versus host disease. We report two children with FA who were treated successfully with matched sibling bone marrow transplantation using a new fludarabine-based conditioning regimen without irradiation. The stem cell source was from marrow which was infused after positive selection of CD34+ cells. Both patients had haematological recovery and no major post-transplant complications occurred. One achieved full donor chimerism and stable mixed chimerism was present in another. This regimen appears to be effective and can prevent FA patients from major transplant related complications. Key words Aplastic anaemia; Bone marrow transplantation; Fanconi anaemia also include rare conditions such as Shwachman-Diamond syndrome, dyskeratosis congenita, Diamond-Blackfan anaemia, Kostmann's syndrome etc. FA is an autosoma