Keywords:Fanconi anemia, Aplastic anemia, Mitomycin C, Chromosomal breakages, Café au lait spots, Skeletal defects
Abstract: Fanconi anemia(FA) is the most common inherited bone marrow failure disorder characterized by cytopenias, somatic defects and increased propensity to develop malignancies. Chromosomal breakage analysis is the gold standard diagnostic test for this disease but it may produce false negative results. Therefore, genetic analysis is necessary for confirmation and complement group identification that will help in prenatal diagnosis. Phenotypic presentation of FA is quite variable. 20-30% patients are physically normal. Affected patients may exhibit anamolies of multiple organs or just a few café au lait spots. Therefore diagnosis of this disease remains challenging. Similar to its phenotype the pathophysiology of this disease is also complicated and still not completely understood. The basic defect is in the DNA repair mechanism. The 21 complementation genes responsible for DNA repair are hampered at any one or multiple levels. The chromosomes from the cells of these patients therefore show spontaneous breakages. The incidence of this disease throughout the world is very rare about 1-2/350000 Persons. It is more common in Jews. In Pakistan incidence of FA is still not known and many of the physicians and surgeons don’t have in depth knowledge as they consider it as a rare disease. However, because of the custom of inter marriages its incidence may be surprisingly high. Therefore in depth knowledge of this disease is necessary. The aim of this review article is to provide information to the physicians dealing such patients so that they should be timely diagnosed and managed accordingly.