Fanconi anemia is an inherited blood disorder that causes a
decreased number of red blood cells, white blood cells, and platelets
(pancytopenia) and that can also result in birth defects and an increased risk
of cancer. The disease may also cause problems with the heart or kidneys and
abnormalities of the arms and legs.
Children and adults with
Fanconi anemia usually have short stature, and other growth measurements may
also be below normal. Other common problems include bleeding episodes and easy
bruising, hormonal problems, and infertility.
Fanconi anemia is
usually diagnosed during childhood, and many children with this disease do not
survive beyond young adulthood.
There is no treatment for the
cause of Fanconi anemia. Support groups and counseling may be helpful for
families of children with Fanconi anemia. Genetic testing is recommended to
identify carriers of the disease and help guide decisions about having
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics
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