HEMATOPOIETIC STEM CELL TRANSPLANTATION IN A CHILD WITH FANCONI ANEMIA – CASE REPORT
Toni Matić, Zrinko Šalek, Radovan Vrhovac, Nadira Duraković, Ružica Lasan-Trčić, Sandra Bašić-Kinda, Dino Dujmović, Ernest Bilić
Fanconi anemia (FA) is a rare inherited disorder associated with congenital abnormalities, progressive bone marrow failure and a predisposition for hematological and nonhematological malignant disease. Bone marrow failure initially presents with thrombocytopenia, erythrocyte macrocytosis, followed by granulocytopenia and anemia. Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative option for the hematological diseases of FA. We present a boy with pancytopenia as a first manifestation of the FA at the age of 5. The boy is the first FA patient in our country treated with HSCT. The bone marrow from a matched unrelated donor was transplanted. Conditioning regimen we used is based on GEFA03 protocol which includes fludarabine, cylophosphamide and busulfan together with alemtuzumab and mycophenolate mofetil as GVHD prophylaxis.