Transfersferrinemia - Causes, Symptoms and Treatmentsof this disease ATransfersferrinemiais an extremely rare genetic disease characterized by low levels of healthy red blood cells and (hypochromic and microcytic anemia) and the accumulation of excess iron in the body (hemosideroses). Symptoms may vary according to the severity of anemia and the extent of iron accumulation in the body and the specific organs affected. Common symptoms include recurrent infections and growth delays.
What is Atransferrinemia:Atransferrinemia is a rare genetic condition in which there are extremely low levels of functional red blood cells. The symptoms of Atransferrinemia are quite variable and depend on the severity of anemia and the extent of iron accumulation in the body caused by the condition. Symptoms may also vary depending on the organ affected by Atransferrinemia. Some of the symptoms are frequent infections and growth retardation. This disease is mainly caused by the transferrin gene mutation and is an autosomal recessive condition. This disease can also be classified as an iron overload disorder.
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What Causes Atransferrinemia:As stated, theATransfersferrinemiais caused by mutation of the transferrin gene and is an autosomal recessive trait which means that defective genes need to be inherited from both parents to have this condition. The role of the transferrin gene is to carry instructions for the cells to produce protein called transferrin, which is responsible for the control of iron in the body. Mutation of this gene results in depletion of functional transferrin causing accumulation of excess iron in the body which, in turn, affects various organs of the body.
What are the symptoms of atransferrinemia:As indicated, the symptoms of Atransferrinemia are significantly variable and depend on the extent of iron accumulation in the body. Some people may have extremely mild symptoms while some people may have serious complications with this disease. Affected individuals usually develop severe microcytic hypochromic anemia in which there are erythrocytes extremely small ones that are inadequately filled hemoglobin, which can cause severe fatigue. Some people may also have hepatomegaly..
Another symptom ofATransfersferrinemiais the growth retardation and frequent infections. THEATransfersferrinemiatends to affect the liver, heart, pancreas, kidneys and thyroid. This abnormal accumulation of iron can also cause liver cirrhosis and arthritis, as well as hypothyroidism and cardiac abnormalities. In acute cases of Atransferrinemia, there may be development of pneumonia, circulatory problems, accumulation of fluid in the heart, lungs, as well as congestive heart failure.
How Atransferrinemia Is Diagnosed:The diagnosis ofATransfersferrinemiacan be made based on the history of the patient and the symptoms that the patient experiences. A laboratory test can detect low levels of transferrin practically confirming the diagnosis ofATransfersferrinemia..
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What are the treatments for Atransferrinemia:The treatment ofATransfersferrinemiaaims to treat the symptoms that an individual experiences. Treatment may consist of infusion of plasma or transfer of infusions to control the buildup of iron in the body to treat certain symptoms such as delayed growth or anemia. Liver transplantation is also an option because most of the transfer is synthesized in the liver, although it has not yet been proven. In addition, genetic counseling is also helpful in dealing with the symptoms ofATransfersferrinemia. In addition, the treatment is only favorable and symptomatic forATransfersferrinemia..
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