Fanconi Anemia is a genetic disorder that affects the bone marrow’s ability to produce new or healthy red blood cells. Both parents must carry the affected gene to pass the disorder onto their children. Typically, parents will not have symptoms of Fanconi Anemia.
Who is at Risk?
Fanconi Anemia crosses all ethnicities and genders. Ashkenazi Jews and Afrikaners are more likely to carry and pass on the condition than other ethnicities. About 1 in 300 Ashkenazi Jews carry the defective gene that causes Fanconi Anemia. While the singular form of the word gene is commonly used to describe Fanconi Anemia inheritance, researchers have found that 13 genes are associated with the condition.
Symptoms
Patients with Fanconi Anemia have faulty bone marrow. If bone marrow does not work properly, the body cannot product new or effective red blood cells. White blood cells are also affected by the condition.
- Fatigue
- Weakness in the limbs
- Difficulty breathing
- Dizziness, especially upon standing
- Poor circulation to the hands and feet
- Paler than normal skin
- Anemia
- Failure of bone marrow
- Defects at birth
Complications
Complications of Fanconi Anemia are most often associated with defective bone marrow. When bone marrow does not product enough healthy red blood cells, anemia occurs. Anemia can lead to many symptoms and side effects, including death. If bone marrow produces immature red blood cells, these cells can block production of healthy red blood cells causing cancer, specifically acute myeloid leukemia. Patients with Fanconi Anemia may be affected in-utero.
Birth defects associated with the condition include:
- Malformed ears, bone, skeleton and eyes
- Heart defects
- Discolored skin
Diagnosis
The symptoms of Fanconi Anemia are similar to other forms of anemia. The rarity of the disease could lead to misdiagnosis. In all cases, genetic testing is needed before a final diagnosis of Fanconi Anemia is given. Tests including chromosome breakage test, cytometric flow analysis and mutation screening may be suggested.
Treatment
Treatments for Fanconi Anemia are developed on a case-by-case basis. Some patients suffer only mild symptoms and bone marrow works effectively most of the time. These cases would be treated far differently than severe cases of the disorder. In all cases, doctors aim to cure the anemia first. Anemia can lead to death.
Patients may be treated with:
- Bone marrow transplant
- Growth factors
- Genetic therapy
Life Expectancy
Patients with Fanconi Anemia suffer varying symptoms and complications. With pro-active and on-going care, most patients live to adulthood. Cancer is one of the biggest threats to patients with Fanconi Anemia, but regular cancer screenings are often performed to catch cancer early for effective treatment. Patients may need multiple blood transfusions throughout life, especially women.