Fanconi anemia is a rare condition affecting the blood. Only 1 out of 160,000 people in the world develop this disease. Those with this condition need the consistent care of a doctor.
Definition & Facts
When someone has Fanconi anemia, the body does not produce enough red blood cells and white blood cells, and it does not make enough platelets. Without enough red and white blood cells, tissues in the body lack oxygen, and infections can become a problem. Without enough platelets, blood clotting becomes an issue.
Symptoms & Complaints
Acute myeloid leukemia is a complication of Fanconi anemia among other types of cancers. Up to 30 percent of people with Fanconi anemia patients develop cancer.
Fanconi anemia caused by genetic mutations of either the FANCA gene, FANCC gene, or FANCG gene account for up to 90 percent of cases of this condition. That said, genetic mutations on 15 genes have been shown to cause this condition.
When the genetic mutations associated with Fanconi anemia occur, DNA damage results, and the damage cannot be repaired. Cells, including those in the bone marrow, die. When this happens, the supply of blood cells in the body diminishes, causing the wide range of aforementioned symptoms associated with this condition.
Fanconi anemia is typically passed down through autosomal recessive inheritance. This requires both copies of the gene in each cell to have the mutations; parents who are genetic carriers typically do not show symptoms.
Diagnosis & Tests
Because signs of Fanconi anemia do not appear right away, diagnosis of the condition often takes place when a child is between two and 15 years old. Prior to birth, birth defects that developed in the fetus and the possibility of Fanconi anemia may be revealed through prenatal diagnosis.
A doctor who is trying to diagnosis a genetic condition such as Fanconi anemia will look for obvious signs of the disorder. The healthcare practitioner examining the person for Fanconi anemia may measure the person’s head as well as the arms and legs. The space between the eyes may also be measured. There may be eye examinations and neurological tests, X-rays, computed tomography (CT) scans, and magnetic resonance imaging (MRI) scans taken to diagnose the problem.
Taking an assessment of the person’s medical history is another component of the diagnostic process. Since this condition is genetic, the health care practitioner will also assess the family's medical history. If available, genetic tests done by a geneticist will be performed. Other laboratory tests may be conducted as well. A doctor who specializes in conditions of the blood may also take part in the diagnosis. This type of doctor is called a hematologist.
Treatment & Therapy
Treatment for Fanconi anemia depends on the condition of the individual being treated. The person’s age will be considered, and so will the rate at which this person’s blood cells regenerate. Cells in the bone marrow may need to be exchanged for bone marrow cells that are healthier. Medication may be given to assist the body with producing more blood cells.
If the bone marrow is seriously impaired and the person requiring a transplant is young, is without major health issues, and hasn’t had many blood transfusions, a stem cell transplant may be performed. This type of a transplant can help the body make blood cells that are not impaired in any way. The transplant can also hinder subsequent health problems and discomfort.
Other treatment options include androgen therapy, synthetic growth factors, gene therapy, or one or more surgical procedures to correct birth defects caused by Fanconi anemia. Surgery to correct a ventricular septal defect, limb deformities, and problems with the digestive system may be recommended in order to improve quality of life for people with this debilitating illness.
Prevention & Prophylaxis