Fanconi Anemia: Causes, Symptoms, Diagnosis, Treatment, and Prevention
A rare genetic disorder, Fanconi anemia affects the bone marrow and various organs of the body. FA also causes physical abnormalities that can affect the appearance and function of different body parts. FA increases the risk of blood diseases and certain types of cancer.
Causes of Fanconi Anemia
It is caused by mutations in one of 13 genes involved in DNA repair, which are responsible for repairing DNA damage that occurs as a result of environmental factors or normal aging. In the absence of these genes, DNA damage accumulates and causes problems in the growth and development of cells, particularly in the bone marrow.
Both parents must carry a faulty copy of the same gene to pass it on to their child, since FA is inherited autosomally recessively. If both parents are careerists, there is a 25% risk that their child will have FA, a 50% risk that their child will be a career, and a 25% chance that their child will not be affected.
Symptoms of Fanconi Anemia
FA can cause a variety of symptoms, depending on the severity of the condition and the organs affected. Some of the common symptoms include:
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Anemia, infections, bleeding, and bruising can result from bone marrow failure, which leads to a reduction in the production of red blood cells, white blood cells, and platelets.
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Some people with FA have physical defects that occur at birth or develop later in life. Among these are abnormal thumbs or fingers, short stature, small or misshapen eyes, abnormal skin pigmentation, heart defects, kidney problems, and genital malformations.
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Acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), head and neck cancer, skin cancer, and gynecological cancer are among the cancers associated with FA. In comparison with the general population, these cancers tend to occur at a younger age.
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Males with FA are usually infertile due to low sperm counts or abnormal sperm, and half of females with FA are infertile due to ovarian failure.
Diagnosis of Fanconi Anemia
Clinical features, family history, and laboratory tests are used to diagnose FA. A chromosome breakage test confirms the diagnosis by testing how sensitive the cells are to DNA damage. FA patients have more broken chromosomes than normal people when exposed to this agent. The test is also used to identify which specific gene is mutated in each patient.
Other tests that may be done to evaluate the condition include:
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Blood tests: These can check the levels of red blood cells, white blood cells, and platelets, as well as the presence of any chromosomal abnormalities or signs of infection.
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Bone marrow biopsy: This can assess the health and function of the bone marrow, as well as the presence of any cancerous cells.
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Imaging tests: These can check the structure and function of the organs that may be affected by FA, such as the heart, kidneys, and genitals.
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Genetic counseling: This can provide information and support to people with FA and their families, as well as help them understand the inheritance pattern and the risks of having children with FA.
Treatment of Fanconi Anemia
The treatment plan for FA will depend on the individual needs and preferences of each person with the condition, and may include:
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One of the only treatments that can possibly cure FA-related bone marrow failure is a bone marrow transplant. The defected bone marrow cells are replaced with healthy ones from a compatible donor, usually a sibling or an unrelated donor. It is risky and requires intensive preparation and follow-up care, but it can improve the survival and quality of life of patients with FA.
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Anemia and bleeding caused by low blood cell counts can be temporarily relieved by blood transfusions. However, repeated transfusions can cause iron overload, which can damage the liver and other organs. As a result, transfusion recipients may need to take medications to get rid of the excess iron.
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Children with FA who have short stature can benefit from growth hormone therapy, which can improve their growth and development and reduce the need for transfusions.
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Medications: These can help treat or prevent infections, bleeding, inflammation, and pain associated with FA. A number of medications, including erythropoietin, granulocyte colony-stimulating factor, and androgens, can also stimulate the bone marrow to produce more blood cells. Aside from their side effects, these medications may also increase the risk of cancer, so they need to be taken with caution and under medical supervision.
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As well as correcting physical abnormalities, surgery can remove any cancerous tumors that may develop in people with FA, such as those in the thumbs, fingers, eyes, heart, kidneys, and genitals.
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Supportive care includes nutritional counseling, physical therapy, occupational therapy, speech therapy, psychological counseling, social work, and palliative care to help people with FA and their families.
Prevention of Fanconi Anemia
There is no way to prevent FA, as it is a genetic disorder that is present from birth. However, there are some steps that can help reduce the risk of complications and improve the outcome of people with FA, such as:
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Avoiding exposure to environmental factors that can damage the DNA, such as tobacco smoke, radiation, and certain chemicals.
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Seeking regular medical care and monitoring, especially for the bone marrow, blood, and organs that may be affected by FA.
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Following the treatment recommendations and taking the medications as prescribed by the healthcare provider.
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Participating in clinical trials and research studies that may offer new or improved treatments for FA.
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Joining support groups and organizations that can provide information, resources, and emotional support to people with FA and their families.
