The brochure Bone marrow failure contains comprehensive information about this disease. For detailed information go to www.fanconianemie.nl. Please note this brochure and website are currently only available in Dutch. The most important information is provided below.
Fanconi anemia is caused by an error in the DNA. In Fanconi anaemia, not both parents need to be carriers. The heterozygous form also exists. Without the parents having any symptoms, they may be carriers of an abnormal FA gene. This gene can be passed on to their child.
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.