Fanconi anemia

Fanconi anemia is a rare inherited disorder that primarily affects the bone marrow, resulting in decreased production of all types of blood cells including red cells, white cells and platelets, a condition known as bone marrow failure. It is caused by mutations in any of more than twenty genes involved in repairing damaged DNA, and is typically inherited in an autosomal recessive pattern, meaning a child must receive a mutated copy of the gene from both parents to be affected. Beyond bone marrow failure, which usually develops in childhood and leads to fatigue, frequent infections and abnormal bleeding, affected individuals often have distinctive physical features such as short stature, skeletal abnormalities of the thumbs and arms, skin pigmentation changes and abnormalities of the kidneys, ears or heart. Because the disorder impairs the body's ability to repair DNA damage, people with Fanconi anemia also face a substantially elevated lifetime risk of developing leukemia and certain solid tumors, particularly of the head, neck and reproductive organs. Treatment centers on managing bone marrow failure, which may eventually require a bone marrow or stem cell transplant, along with lifelong surveillance for cancer given the significantly increased risk associated with the condition.