A review on Fanconi Anemia
Keywords:FanconiAnemia (FA), bone marrow failure, congenital abnormalities, increased cancer risk, genetic mutations
FanconiAnemia (FA) is a rare, inherited disorder primarily characterized by bone marrow failure, leading to reduced blood cell production and consequent anemia, leukopenia, and thrombocytopenia. This condition is also associated with congenital abnormalities, increased cancer risk (especially leukemia and tumors in the head, neck, and reproductive organs), and endocrine problems. FA is a genetically heterogeneous disorder caused by mutations in over 20 identified genes and is typically transmitted in an autosomal recessive pattern. Diagnosis methods include blood tests and chromosome breakage tests. Management of FA is multifaceted, encompassing blood transfusions, bone marrow transplants, hormone therapy, surgery, and preventive monitoring for associated health risks. Treatment responses and prognosis vary among individuals, with continual research and medical advancements improving the outlook for those with FA. For up-to-date and personalized medical advice, consultation with healthcare professionals is essential.