Fanconi anemia is caused by an error in the DNA. Both parents are carriers of an abnormal FA gene that they have passed on to their child. The parents themselves are not affected.
Children with FA often have skeletal and organ malformations and café au lait spots, and stunted growth. The aplastic anemia can make them pale, tired, dizzy and short of breath and cause pinpoint spots, bruising, recurring infections, fever and sometimes stomach pain, bone pain and an enlarged spleen.
How is Fanconi anemia diagnosed?
Blood tests are done and bone marrow is extracted under sedation. Genetic testing is also carried out and a chromosome breakage test is performed.
Children with FA are treated according to a protocol drawn up by national and international experts. Aplastic anemia can be treated with an allogeneic stem cell transplant.
Chance of recovery
Aplastic anemia is easy to cure, but not the FA itself. Consequently, children with FA are monitored for the rest of their life.
Children and adolescents with FA are treated in the hematology-oncology department.