Bone marrow failure in Fanconi's Anaemia:: an in vitro study in long term bone marrow cultures

Fanconi anemia (FA) is an autossomal recessive genetic disease with an estimated prevalence ranging from 1:20.000 to 1-3 per million. It's characterized by a variety of congenital abnormalities, explained by a molecular heterogeneity associated to 8 complementation groups (FANCA to FANCH) classified through somatic cell fusion studies. The clinical phenotype includes a high probability of bone marrow failure and/or predisposition to cancers, especially acute myeloblastic leukemia (AML). The molecular basis of FA, as well as the cellular pathways involved, have not been completely elucidated. The process of bone marrow failure affects 98% of the cases, with a mean age of onset around 7 years. This report shows the preliminary results of bone marrow assays in long term bone marrow culture (LTBMC) in 4 FA cases and their controls (n=8). The haematopoietic failure in FA could be observed through the cellular growing maintenance in this system, even in the cases without anemic features by the time of collection.