What is Fanconi anemia?
Fanconi anemia is a type of aplastic anemia – a condition that causes the blood to have a lower than a normal number of blood cells. In Fanconi anemia, the bone marrow does not make enough or stops making all three types of blood cells – red blood cells (to carry oxygen), white blood cells (to fight infection) and platelets (to help blood clot).
Although Fanconi anemia is a blood disorder, it can also affect many of the body’s other organs, tissues, and systems. Children who inherit Fanconi anemia are at higher risk for birth defects and for developing certain cancers and other serious health conditions.
Fanconi anemia is different than Fanconi syndrome, a condition that affects the kidneys.
Fanconi anemia is often diagnosed at birth or soon after because it affects the way your bone marrow produces blood cells. When you don’t have a sufficient number of blood cells you’ll begin to experience the following:
Aplastic Anemia
Aplastic anemia is characterized by a lack of energy due to low numbers of red blood cells, which help to oxygenate your blood. The symptoms of anemia include dizziness, headaches, and an inability to keep your hands and feet warm.Birth Defects
Certain types of birth defects will indicate that your infant has FA, including:- Bone defects, especially involving the thumbs and arms
- Eye and ear defects
- Skin discoloration
- Kidney problems
- Congenital heart defects
Developmental Problems
- Developmental problems can include:
- Low birth weight
- Poor appetite
- Delayed growth
- A smaller-than-normal height
- A smaller-than-normal head size
- Intellectual disability
Symptoms in Adults
Adults who are diagnosed later in life will usually experience a completely different set of symptoms. The symptoms in adults will usually affect the sexual organs or the reproductive system. The symptoms in women include:- Periods that occur later than normal
- Fertility issues
- Frequent miscarriages
- Early menopause
- Smaller-than-normal genitals
