Fanconiaanemia is an inherited anaemia that leads to bone marrow failure (Aplastic anaemia). The bone marrow is the fluid within the bones that produces the cells in the blood. With failure of bone marrow production, the various cells in the blood are not formed and patients suffer from infections, spontaneous bleeds and low haemoglobin.
Fanconiaanemia (FA) is an inherited disease. "Inherited" means that the disease is passed from parents to children through the genes. At least 13 faulty genes are associated with FA. FA develops when both parents pass the same faulty FA gene to their child.
People who have only one faulty FA gene are FA "carriers." Carriers don't have FA, but they can pass the faulty gene to their children.
If both of your parents have a faulty FA gene, you have:
If only one of your parents has a faulty FA gene, you won't develop the disorder. However, you have a 50 percent chance of being an FA carrier and passing the gene to any children you have.
People who have Fanconiaanemia (FA) are born with the disorder. They may or may not show signs or symptoms of it at birth. For this reason, FA isn't always diagnosed when a person is born. In fact, most people who have the disorder are diagnosed between the ages of 2 and 15 years.
The tests used to diagnose FA depend on a person's age and symptoms. In all cases, medical and family histories are an important part of diagnosing FA. However, because FA has many of the same signs and symptoms as other diseases, only genetic testing can confirm its diagnosis.
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