Fanconi anemia

Overview

What is Fanconi anemia?

Fanconi anemia (FA) is a genetic condition that can lead to anemia (low red blood cell count), bone marrow failure, physical abnormalities, defects in different body organs, and an increased risk for cancer. It is estimated that about 60-75% of people with FA have physical abnormalities, which include unusually light colored skin (hypopigmentation) or café au lait spots (dark patches of skin). People with FA may also have abnormalities with their skeletal system, kidneys, gastrointestinal system, heart, eyes, ears, genitalia, reproductive system, brain, and spinal cord. FA also causes an increased risk for a type of cancer called acute myeloid leukemia (AML), as well as other tumors of the head, neck, skin, gastrointestinal system, or genital tract. Current therapies and treatments for FA include: stem cell transplant, blood transfusions, androgen therapy, and surgery for birth defects.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/fanconi-anemia/overview/58195 • DATE UPDATED: 2017-01-12

References

Alter, B. P., & Kupfer, G. (2013, Feb 7). GeneReviews. Retrieved from Fanconi Anemia: http://www.ncbi.nlm.nih.gov/books/NBK1401/

Fanconi Anemia Research Fund, Inc. (2016, March). Fanconi Anemia. Retrieved from What is Fanconi Anemia and How is it Diagnosed: http://fanconi.org/images/uploads/other/FA_Fact_Sheet_March_2016.pdf

Genetics Home Reference. (2016, May 31). Genetics Home Reference. Retrieved from Fanconi Anemia: https://ghr.nlm.nih.gov/condition/fanconi-anemia#

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