Fanconi anaemia

Fanconi's anaemia is an autosomal recessive disease associated with bone marrow dysfunction and chromosomal instability. It appears at a mean age of 7 years, but can arise very early, at birth, or, even more rarely, very late around 40 years of age. The disease has been found in all ethnic groups and its frequency has been estimated to be 1/350.000 births. Main haematological manifestations of Fanconi’s anaemia are a reduced platelet count (Thrombocytopenia) with progressive reduction of all blood cells (Pancytopenia). This is due to progressive failure of the bone marrow producing blood cells. Patients with FA have a series of typical anomalies including short stature, abnormal thumbs, microcephaly, café au lait and hypopigmented spots, genitourinary tract and cardiopulmonary anomalies. Molecular defects of Fanconi anaemia are elucidated: Fanconi genes are involved in DNA repair.

Synonym: Fanconi's syndrome