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Fanconi Anemia is a rare inherited disorder that can affect children. Children with FA have bone marrow that doesn't produce enough blood cells. Several genes associated with hereditary cancer have also been associated with FA, including BRCA2, PALB2, BRIP1, and RAD51C. A child must inherit two abnormal copies of one of these genes—one from each parent—to develop FA.
Some children with FA have physical abnormalities such as alterations in skin pigment, deformity of the thumbs, a very small head size, or short stature. Other abnormalities in the heart, kidney, genitalia or hearing may also develop. Blood abnormalities usually develop before the age of 12, and may include fatigue and paleness, bleeding or bruising problems from low platelets, or susceptibility to infections from low numbers of white blood cells.
The risk for two parents carrying an abnormal BRCA gene is highest in couples where one or both of the parents are of Jewish descent. If you or your partner’s family has a known BRCA mutation, and you are concerned about the possibility of having a child with FA, please consult with a qualified expert in cancer genetics. There are options available using IVF and PGD to select embryos that do not carry BRCA mutations.