Fanconi Anemia, a Case Report

Fanconi anemia is an autosomal recessive genetic syndrome which is most commonly caused by FANCA gene mutation. This rare disease is associated with a variety of chromosomal and somatic abnormalities including short stature, skin spots, deformity of the thumb and radius, genitourinary tract anomalies and many other disorders. Also the disease is associated with severe blood disorder in the form of aplastic anemia. Because of the importance of hematologic complications of the disease, fanconi anemia should also be considered in patients with aplastic anemia. Case report: In this report, we have introduced an 8 -year old girl who was referred to us with the complaints of fever and mouth ulcers, pancytopenia and low growth measures. There was severe hypoplasia in her bone marrow biopsy. Chromosome studies also showed increased chromosomal fragility. So Fanconi anemia was the most likely diagnosis. The patient is currently a candidate for stem cell transplantation but periodically requires infusion of packed red blood cells and platelets. Fanconi anemia can be considered as one of the causes of growth retardation and pancytopenia, even though not satisfying some of its clinical criteria.