What are symptoms of Fanconi anemia?
Fanconi Anemia Symptoms
- Growth deficiency: low birth weight, prenatal and/or postnatal short stature.
- Skeletal anomalies—the most common being no thumb or radius bone (one of the two bones in the forearm)
- Abnormal skin pigmentation —dark or light-colored birthmarks.
- Structural anomalies of the kidney and/or heart.
What is Fanconi anemia disease?
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce new blood cells.
How does Fanconi anemia affect the body?
If you have Fanconi anemia, your bone marrow doesn’t create healthy blood cells and platelets. People with FA have an increased risk of developing blood disorders and some kinds of cancer. FA also causes physical abnormalities that can affect people’s organs and appearances.
Is Fanconi anemia life threatening?
Fanconi anemia is a lifelong disease that can be life-threatening. Work with your child’s healthcare provider to create a treatment plan for your child that can help them live as normal a life as possible.
How long do people live with Fanconi anemia?
Because the extent of Fanconi anemia varies, the average lifespan for people with the disorder is between 20 and 30 years old. But some patients live into their 30s, 40s and 50s. About 80 percent of people who have Fanconi anemia live to age 18 or older.
What causes Fanconi?
Cystinosis is the most common cause of Fanconi syndrome in children. Other causes in children include: Exposure to heavy metals such as lead, mercury, or cadmium. Lowe syndrome, a rare genetic disorder of the eyes, brain, and kidneys.
How is Fanconi diagnosed?
Doctors diagnose aplastic anemia using:
- Family and medical histories and a physical exam.
- A complete blood count (CBC) to check the number, size, and condition of your red blood cells. The CBC also checks numbers of white blood cells and platelets.
- A reticulocyte (re-TIK-u-lo-site) count.
- Bone marrow tests.
At what age is Fanconi anemia diagnosed?
People who have Fanconi anemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn’t always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years.
Is Fanconi anemia rare?
Fanconi anemia (FA) is a rare genetic disorder, in the category of inherited bone marrow failure syndromes. Half the patients are diagnosed prior to age 10, while about 10% are diagnosed as adults.