This Category has no FAQ yet
This Category has no FAQ yet
Fanconi anemia (FA) is one of the inherited anemia’s that leads to bone marrow failure (aplastic anemia). It is a recessive disorder: if both parents carry a defect (mutation) in the same FA gene, each of their children has a 25% chance of inheriting the defective gene from both parents. When this happens, the child will have FA.
There are at least thirteen FA genes (A, B, C,D1 (BRCA2), D2, E, F, G, I, J, L, M, and N). These eleven account for almost all of the cases of Fanconi anemia. Mutations in FA-A, FA-C, and FA-G are the most common and account for approximately 85% of the FA patients worldwide.
FA occurs equally in males and females. It is found in all ethnic groups.Though considered primarily a blood disease, it can affect all systems of thebody. Many patients eventually develop Acute Myelogenous Leukemia (AML) and at a very early age. FA patients are extremely likely to develop head and neck, gynecological, and/or gastrointestinal squamous cell carcinomas, again at a much earlier age than in squamous cell carcinoma patients in the general population. Patients who have had a successful bone marrow transplant and, thus, are cured (although it can reoccur) of the blood problem associated with FA still must have regular examinations to watch for signs of cancer.
Fanconi anemia usually reveals itself before children are 12 years old, but in rare cases no symptoms are present until adulthood. Fanconi anemia patients are usually smaller than average. They may feel extreme fatigue and have frequent infections. Nose bleeds or easy bruising may be a first sign of the disease. Blood tests may reveal a low white cell, red cell or platelet count or other abnormalities. Sometimes myelodysplasia, AML, or squamous cell carcinoma in a young adult is the first sign of FA.
FA sometimes is evident at birth through a variety of physical defects.
These may include any of the following:
· Hand and arm anomalies: misshapen, missing or extra thumbs or an incompletely developed or missing radius (one of the arm bones).
· Skeletal anomalies of the hips, spine, or ribs.
· Kidney problems, including missing or horseshoe kidney.
· Skin discoloration (café-au-lait spots); portions of the body may have a suntanned look.
· Small head or eyes.
· Mental retardation or learning disabilities.
· Low birth weight.
· Gastrointestinal difficulties.
· Small reproductive organs in males.
· Defects in tissues separating chambers of the heart.
People with Fanconi anemia often develop leukemia and other cancers. In fact, Fanconi anemia patients have a much greater risk of developing acute myelogenous leukemia (AML) than people without Fanconi anemia
Leukemia is a malignancy of the blood system in which the bone marrow produces vast quantities of immature white cells called "blasts." The blasts can proliferate rapidly and suppress the development of healthy blood cells needed for effective functioning of the patient's body. If untreated, leukemia results in uncontrollable infections and bleeding, and death. The type of leukemia that FA patients are likely to develop, AML, is a particularly aggressive type, usually found in older people. AML is difficult to treat successfully, especially in FA patients, who are very sensitive to the toxic drugs used to suppress the leukemia.
Fanconi anemia patients have an extremely high risk of developing squamous cell cancers in areas of the body in which cells normally reproduce rapidly, such as the mouth, esophagus, the intestinal and urinary tracts, the anus and the reproductive organs. FA patients may develop these cancers at a much earlier age than people without Fanconi anemia. Patients who have had a successful bone marrow transplant and, thus, are cured (although there Is as light risk that they may reoccur) of the blood problems associated with FA, still must have regular examinations to watch for signs of cancer.
Please contact us with any other questions.
There are stuffed bears, silicone wrist bands, and handmade jewelry.
The proceeds that are going to charity will vary per item, the actual cost to produce the item is the only portion of a sale that does not go to charity.
The only charity we support is The Fanconi Anemia Research Fund.
Returns and exchanges are considered on an individual basis.
* Please contact us before returning item.
* If you have received the wrong item or there is a problem with your order please contact us right away. We strive to make our customers 100% happy and we will correct any issue immediately. Please contact us with as many questions as you like about our products - we will be happy to answer them for you.
* Exchanges and refunds will be made within 7days after the buyer has received the product.
* We do advise to return item with a delivery confirmation receipt to ensure its safe return back to us.
ALL RETURNS OR EXCHANGES MUST ACCOMPANY A COMPANY PROVIDED RMA (RETURN AUTHORIZATION NUMBER).
Shipping will vary and will be provided during checkout.
This store does not provide custom orders.
Please contact us with any other questions