Transfersferrinemia – Causes, Symptoms and Treatments
Transfersferrinemia – Causes, Symptoms and Treatments of this disease Transfersferrinemia is an extremely rare genetic disorder characterized by low levels of healthy, functioning red blood cells in the blood (hypochromic and microcytic anemia ) and the accumulation of excess iron in the body (hemosideroses) . Symptoms can vary depending on the severity of the anemia and on the extent of iron accumulation in the body and the specific organs affected. Common symptoms include recurrent infections and growth retardation.
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What are the Causes of Atransferrinemia: As stated, ATransferrinemia is caused by transferrin gene mutation and is an autosomal recessive trait which means that faulty genes need to be inherited from both parents to have this condition. The function of the transferrin gene is to carry instructions for cells to produce a protein called transferrin, which is responsible for controlling iron in the body. Mutation of this gene results in functional transferrin depletion causing accumulation of excess iron in the body which in turn affects various organs in 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 experience extremely mild symptoms while some people may experience severe complications with this disease. Affected individuals often develop severe microcytic hypochromic anemia in which there are extremely small erythrocytes that are inadequately filled hemoglobin, which can cause severe fatigue. Some people may also have hepatomegaly.
Another symptom of ATransferrinemia is growth retardation and frequent infections. ATransferrinemia tends to affect the liver, heart, pancreas, kidneys and thyroid. This abnormal accumulation of iron can also cause cirrhosis of the liver and arthritis, as well as hypothyroidism and heart abnormalities. In acute cases of Atransferrinemia, pneumonia, circulatory problems, fluid accumulation in the heart, lungs, as well as congestive heart failure may develop.
How ATransferrinemia Is Diagnosed: The diagnosis of ATransferrinemia can be made based on the patient’s history and the symptoms the patient experiences. A lab test can detect low levels of transferrin virtually confirming the diagnosis of ATransfersferrinemia .
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What are the treatments for Atransferrinemia: The treatment of ATransferrinemia aims to treat the symptoms that an individual experiences. Treatment may consist of plasma infusions or transfer of infusions to control the buildup of iron in the body to treat certain symptoms such as stunted growth or anemia . Liver transplantation is also an option, as most of the transfer is synthesized in the liver, although this has not yet been proven. In addition, genetic counseling is also of help in dealing with the symptoms of ATransfersferrinemia . Furthermore, treatment is only favorable and symptomatic for ATransferrinemia .