Fanconi Anemia (FA)
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If you're interested in joining the study, please visit the Fanconi Anemia Cancer Screening Study enrollment website, or call 1-800-518-8474 for more information.Join the
Fanconi Anemia (FA)
Join the Study
If you're interested in joining the study, please visit the Fanconi Anemia Cancer Screening Study enrollment website, or call 1-800-518-8474 for more information.Join the Study
Individuals with FA often have physical abnormalities and their laboratory findings include bone marrow failure, increased chromosome breakage in cells grown in the presence of a chemical which damages DNA. Bone marrow failure is not required for the diagnosis, and ~25% of all persons eventually diagnosed as being affected by FA do not have the typical FA findings on physical examination. FA has been diagnosed at ages ranging from birth to >50 years of age. Males and females are affected equally.
What are the major findings on physical examination
- Short stature
- Abnormal thumbs sometimes accompanied by abnormalities in the bones of the lower arm
- Café au lait spots (flat, brown birth marks)
- Small head, small eyes
- Abnormal kidneys
- Abnormal male genitalia
What is the age at diagnosis?
- Anytime from birth to more than 50 years of age
- The diagnosis is usually made between 6 and 10 years of age.
What is the natural progression of bone marrow failure in individuals with FA?
- Bone marrow failure means the number of blood cells is too low because the bone marrow has stopped producing enough mature cells.
- Some people with FA live for years without bone marrow failure while others develop symptoms earlier.
- Individuals with FA typically start with low blood counts in one of these types of cells, and then progress to low counts in two or more types of blood cells (also known as aplastic anemia):
- Low red blood cell count (anemia)
- Low platelet count (thrombocytopenia)
- Low white blood cell count (leukopenia)
What types of cancer are individuals with FA at higher risk of developing?
- Leukemia (cancer of the blood and bone marrow)
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