Fanconi anemia history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Symptoms
Hematological Abnormalities
Clinically, haematological abnormalities are the most serious symptoms in FA. By the age of 40, 98% of FA will have developed some type of haematologic abnormality. It is interesting to note however the few cases in which older patients have died without ever developing them. Symptoms appear progressively and often lead to complete bone marrow (BM) failure. While at birth blood count is usually normal, macrocytosis/megaloblastic anemia, defined as unusually large red blood cells, is the first detected abnormality, often within the first decade of life (median age of onset is 7 years). Within the next 10 years, over 50% of patients presenting haematological abnormalities will have developed pancytopenia, defined as abnormalities in two or more blood cell lineage. Indeed, thrombocytopenia, defined as platelet count of less than 100x109/L precede neutropenia, defined as a neutrophil count below 1x109/L, both appearing with relative equal frequencies, causing hemorrhage and increases in recurrent infections.