Fanconi's anemia. Current concepts.
Fanconi's anemia is an autosomal recessive disorder with a high incidence (greater than 90%) of aplastic anemia and a premalignant component with a greater than 10% risk of leukemia or solid tumors. The diagnosis of Fanconi's anemia depends on increased chromosomal breakage in lymphocytes following treatment with a DNA cross-linking agent; patients have been identified who are clinically well and whose physical appearance is normal. Although bone marrow or cord blood transplants can be curative, treatment for the aplastic anemia usually depends on androgens. Close to 20 patients with Fanconi's anemia have delivered normal babies, and the mothers' hematologic status was not significantly adversely affected by the pregnancy. A few patients have clonal cytogenetic abnormalities in their bone marrow that do not necessarily indicate leukemic transformation, but further follow-up is important. Studies of in vitro erythropoiesis indicate a correlation between the clinical hematologic status and the presence of erythroid progenitors in the blood or bone marrow. Certain hematopoietic growth factors do increase growth in vitro, suggesting that new types of therapy may become available. Not every patient has a poor prognosis. There are now many adults with Fanconi's anemia, some with families of their own.
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Polly Annenberg Levee Hematology Center, Department of Medicine, Mount Sinai School of Medicine, New York, NY 10029.
D000293:Adolescent; D000328:Adult; D000728:Androgens / Q000627:therapeutic use; D016026:Bone Marrow Transplantation; D002648:Child; D002675:Child, Preschool; D004920:Erythropoiesis; D005199:Fanconi Anemia / Q000175:diagnosis / Q000235:genetics / Q000401:mortality / Q000503:physiopathology / Q000628:therapy; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015993:Life Tables; D008297:Male; D008875:Middle Aged; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic; D011289:Preleukemia / Q000235:genetics; D016019:Survival Analysis
D000728:Androgens