<unk>  (FA) is a  genetic disease that affects children and adults from all ethnic backgrounds. It is causes by mutations in DNA repair proteins that lead to increased susceptibility to DNA breakage, which in turns leads to ineffective erythropoiesis and increased risk for malignancies. The disease is named after the Swiss pediatrician who originally described this disorder, Guido<unk> . FA is characterized by short stature, skeletal anomalies, increased incidence of solid tumors and leukemias, bone marrow failure (aplastic<unk> , and cellular sensitivity to DNA damaging agents such as mitomycin C. Treatment involves allogeneic stem cell transplant or supportive measures like transfusions and growth factor support.
Fanconi anemia
Diamond-Blackfan anemia
Hemoglobin Lepore syndrome
Hereditary spherocytosis
Thalassemia
Familial erythrocytosis
Paroxysmal nocturnal hemoglobinuria
Fanconi syndrome