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First described by Fanconi in 1967, Fanconi's anaemia (FA) is a clinically heterogeneous disorder usually presenting in childhood with the common feature being slowly progressive marrow failure affecting all 3 cell lines (RBC, WBC and megakaryocytes) and manifest by peripheral blood pancytopenia and eventual marrow aplasia. It is a recessively inherited disorder with several different germline genetic mutations involving at least 8 genes, 4 of which have been identified and characterised, and all of which are on different chromosomes.

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