Those who have Fanconi anemia do not have enough new blood cells for their bodies to function normally. In fact, the bone marrow can start to make abnormal blood cells instead of healthy ones. Serious health problems can develop as a result of Fanconi anemia including blood cancers.
Even though Fanconi anemia is a blood disorder, it can have an impact on other organs and tissues within the body. Typically those born with Fanconi anemia have other birth defects or other serious health or developmental problems.
Bone Marrow Problems
When an individual has a healthy bone marrow three types of blood cells are manufactured in the bone marrow of large bones including red blood cells, white blood cells, and platelets. In this and other blood disorders, the bone marrow isn’t able to make enough normal, healthy blood cells which leads to unhealthy blood.
In the case of Fanconi anemia there isn’t enough red blood cells, white blood cells and platelets that are healthy which leads to serious health issues. Because there aren’t enough white blood cells in the blood, the individual is not able to fight off infections.
Without enough red blood cells, the body won’t be able to have adequate blood oxygen supplies to various body parts so the parts won’t work well. Because the body doesn’t have enough platelets, excessive bleeding can occur.
Those who have this condition can develop cancers including leukemia and solid tumors as they age. These other tumors can develop in various parts of the body including the mouth, esophagus, tongue and throat. Females with Fanconi anemia can develop tumors of the reproductive system.
Unfortunately, individuals who develop Fanconi anemia rarely live longer than twenty or thirty years. Bone marrow transplant does increase the risk of surviving Fanconi anemia.
Doctors treat Fanconi anemia based on the age of the patient and how the bone marrow is producing. The treatment goal is to cure the anemia by replacing damaged bone marrow cells with healthy cells and by using medications to treat the symptoms.
Individuals with Fanconi may be given antibiotics to help fight infections if blood tests show that the white blood counts are too low to fight off the infections without help. The individual may also be given blood transfusions to bring the blood cell counts to within normal range.
Long-term treatment goals include a bone marrow transplant, androgen therapy, synthetic growth factors and also gene therapy. If the individual has birth defects of the limbs or other body parts due to birth defects caused by Fanconi anemia surgery may be necessary. Surgery may also be necessary to correct digestive system issues.
Like This Article? Get Sciencebeta’s weekly digest of the latest research in health sciences, psychology, neuroscience, and medicine. Subscribe here for free