Atransferrinemia: Causes, Symptoms, Diagnosis, Treatment
What Is Atransferrinemia?
Atransferrinemia is a rare genetic condition in which there are extremely low levels of functional red cells in the blood. The symptoms of Atransferrinemia are quite variable and depend on the severity of the anemia and the extent of accumulation of iron 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 primarily caused by mutation of transferrin gene and is an autosomal recessive condition. This disease can also be classified as an iron overload disorder.
What Are The Causes Of Atransferrinemia?
As stated, Atransferrinemia is caused due to mutation of the transferrin gene and is an autosomal recessive trait meaning that the defective genes need to be inherited from both parents to have this condition. The function of the transferrin gene is to carry instructions for the cells to produce protein called as transferrin which is responsible for 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 in the body
What Are The Symptoms Of Atransferrinemia?
As stated, symptoms of Atransferrinemia are significantly variable and depend on the extent of iron accumulation in the body. Some people may have extremely mild symptoms whereas some people may have serious complications with this disease. Affected individuals usually develop severe microcytic hypochromic anemia in which there are extremely small erythrocytes which are inadequately filled hemoglobin which may cause severe fatigue. Some people may also have hepatomegaly.
Other symptom of Atransferrinemia is growth retardation and frequent infections. Atransferrinemia tends to affect the liver, heart, pancreas, kidneys as well as thyroid. This abnormal accumulation of iron can also cause cirrhosis of the liver and arthritis as well as hypothyroidism and cardiac abnormalities. In acute cases of Atransferrinemia, there may be development of pneumonia, circulatory problems, fluid buildup in the heart, lungs, as well as congestive heart failure.
How Is Atransferrinemia Diagnosed?
The diagnosis of Atransferrinemia can be made based on the history of the patient and the symptoms that the patient experiences. A laboratory test can detect low level of transferrin virtually confirming the diagnosis of Atransferrinemia.
What Are Treatments For Atransferrinemia?
The treatment of Atransferrinemia is aimed at treating the symptoms that an individual experiences. The treatment may consist of plasma infusions or transferring infusions to control iron buildup in the body to treat certain symptoms like growth retardation or anemia. Liver transplantation is also an option as most of transferring is synthesized in the liver, although it has not been proven as of yet. Apart from this, genetic counseling is also of help in dealing with the symptoms of Atransferrinemia. Other than this, treatment is only supportive and symptomatic for Atransferrinemia.