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Typically the bone marrow examination shows depression of the three cell lines, which correlates with the finding of peripheral pancytopenia. Some children with Fanconi anemia may occur at the beginning hypercellularity of bone marrow hyperplasia as a result of RBC is making Tadio hypocellular in advanced illness. The anemia of chronic aregenerative usually normocytic or slightly macrocytic, the percentage of reticulocytes is commonly low. The leukocyte differential count usually reveals granulocytopenia (especially neutropenia) with relative lymphocytosis.

Estimation of fetal hemoglobin may be of value suggesting the diagnosis of Fanconi anemia. However, it should be noted that also can be high (although to a lesser extent) in children with acquired aplastic bone marrow, thalassemia, hereditary persistence of fetal hemoglobin and juvenile chronic myeloid leukemia.A significant proportion of patients may have various chromosomal abnormalities, fractures, and endorreduplicaciones chromatid translocation in lymphocytes, fibroblasts and bone marrow cells. Similar alterations were found in patients with leukemia have been described increased incidence of acute myelogenous leukemia in Fanconi anemia patients and their close relatives. Chromosome abnormalities become more apparent after exposure to agents such as mitomycin C or diepoxybutane. In fact the latter is used as a diagnostic test for this type of aplastic anemia.

Previously it was felt that some children with such a form of onset of aplastic anemia, congenital abnormalities but had a different disorder called estren-Dameshek syndrome. However, based on the sensitivity of cells to the diepoxybutane at the present moment is considered that these children have inherited the same disorder but without skeletal malformations.

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