Fanconi's anemia is a rare, inherited blood disorder that affects the production of blood cells. It is characterized by bone marrow failure, an increased risk of certain types of cancer, and physical abnormalities. The condition is named after Swiss pediatrician Guido Fanconi, who first described it in 1927. The disorder affects people of all ages and ethnicities, though it is more common in people of Ashkenazi Jewish descent.
Symptoms of Fanconi's Anemia
People with Fanconi's anemia may experience a variety of symptoms, including bone marrow failure, anemia, physical abnormalities, and an increased risk of certain types of cancer. Common symptoms of bone marrow failure include fatigue, shortness of breath, and pale skin. Physical abnormalities associated with the condition may include malformed thumbs and fingers, skeletal abnormalities, and delayed growth and development.
Diagnosis
Fanconi's anemia is typically diagnosed through a complete medical history, physical exam, and lab tests. Blood tests can help diagnose the condition by detecting abnormal levels of red and white blood cells and platelets. Genetic testing can also be used to confirm the diagnosis.
Treatment Options
Treatment for Fanconi's anemia typically involves managing the symptoms and complications of the condition. Bone marrow transplants are often recommended to treat the bone marrow failure associated with the condition. Other treatments may include blood transfusions, growth hormone therapy, and chemotherapy.
