Abstract Fanconi anaemia (FA) is a very rare genetic disease with an incidence estimated at 1 per 130,000 births. FA is the result of a genetic defect in a cluster of proteins responsible for DNA repair As a result, the majority of FA patients develop cancer, most often Acute Myelogenous Leukemia, and 90% develop Bone Marrow Failure by age 40. About 60–75% of FA patients have congenital defects, commonly short stature, abnormalities of the skin, arms, head, eyes, kidneys, and ears, and developmental disabilities. Around 75% of FA patients have some form of endocrine problem, with varying degrees of severity. Median age of death is around 3035 years. Treatment with androgens and hematopoietic (blood cell) growth factors can help bone marrow failure temporarily, but the longterm treatment is Bone Marrow Transplant if a donor is available.
Keywords: Fanconi; Anaemia; Bone Marrow Failure.