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Fanconi's anemia

Fanconi's anemia Definition

Fanconi's anemia (FA) is an inherited ailment that involves children and adults belonging to all ethnic backgrounds. FA is distinguished by skeletal abnormalities, short figure, elevated occurrence of solid tumors and leukemias, failure in bone marrow and cellular sensitivity destroying agents like mitomycin C.

Fanconi's anemia Genetic prevalence

FA is mainly an autosomal recessive genetic disorder that has at least 13 gene mutations hta causes the following FA: A, B, C, D1, D2, E, F, G, I, J, L, M and N. The only exemption to FA as an autosomal recessive genetic disorder is the FANCB for the reason that this gene is located on the X-chromosome. A disease is classified as autosomal recessive disorder if both parents are carriers wherein the child will inherit such condition. Around 25% individuals worldwide are affected by this disease. In Ashkenazi Jewish population there are about 1/90 carrier occurrences. For families that are carriers it is recommended that that they undergo genetic testing and genetic counseling. Due to the failure of the red and blue-white blood cells and platelets the body is prone to infections, severe bleeding and tiredness. To repair or fix hematological problems related with FA bone marrow transplants are accepted treatment. Even though the patient has undergone bone marrow transplants they are still prone to acquiring cancer and several severe health problems all through their lives.

Fanconi's anemia Prevalence

Fanconi anemia is classified as a “rare disease” which suggests that it affects less than 200,000 people in the US population and this according to the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH).

Fanconi's anemia Prognosis

Acute myelogenous leukemia (AML) are sooner or later developed by patients. For older patients, they are prone to develop esophageal, head and neck, gastrointestinal, anal and vulvar cancers. Regular examinations should be done to patients who have undergone bone marrow transplants to monitor signs of cancer. Several patients who have this disease do not reach adulthood. The most difficult challenge that Fanconi patients need to face is the failure of their bone marrow to generate blood cells. Also patients born with this disease has birth abnormalities. For example, in Jewish children 90% do not have thumbs and eyesight problems, kidney problems, developmental retardation and several serious abnormalities are acquired by a good number of Fanconi patients. Constant care should be provided to Fanconi patients while research is still done, there is still hope in treating this disease.

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