Iron overload is the presence of excess amount of iron in the body. Normally, the excess iron is stored in the organs, particularly the liver, pancreas and the heart. The iron overload can potentially increase the risk of developing various complications such as liver disease, heart failure, metabolic syndrome, osteoporosis, diabetes mellitus and even death in some of the cases. The iron overload can also accelerate the development of other conditions such as Parkinson’s, Huntington’s and Alzheimer’s. This can either be inherited (hereditary hemochromatosis) or acquired as the result of receiving a number of blood transfusions or with the consumption of high levels of supplemental iron.
Causes
The hereditary hemochromatosis is the common type of problem among most of the affected individuals. This develops as the result of the genetic mutation that manages the quantity of iron that needs to be absorbed from the food. The gene identified for causing this condition is HFE which has two mutations, C282Y and H63D. When an individual inherits two copies of the defective gene, they can develop this condition. Individuals who only inherit one copy of the mutated gene won’t develop this condition but are considered as the carrier of the disease but can pass the defective gene to their children.
Symptoms
Some of the symptoms of iron overload include joint pain, weakness, fatigue, abdominal pain, irregular heart rhythm, hair loss, impotence, elevated blood sugar, loss of period and changes in the skin color. Some of the diseases that can develop as the result of excess iron include cirrhosis, liver cancer, heart failure, hypopituitarism, adrenal function problems and the early onset of neurodegenerative disease. Individuals with the immediate family member having this condition should be advised to have a genetic test to determine if they have inherited the defective gene.
Diagnosis
The hereditary hemochromatosis can be difficult to diagnose as most of the people do not have symptoms other than the increased level of iron in their blood. The hemochromatosis is usually detected when the blood tests done for other condition is abnormal. The tests that usually detect the high levels of iron include the serum transferrin saturation that measures that quantity of iron on the protein known as transferrin that carries the iron in the blood and the serum ferritin which measures the iron stored in the liver. As various other conditions can also present an elevated level of iron in the blood, both the tests are done after fasting to diagnose the condition. In most of the cases, individuals may also require a genetic testing to confirm the diagnosis. Additional tests can also include MRI to determine the amount of iron overload in the liver, live biopsy and a liver function test.
Treatment
The treatment can consist of the effective removal of the blood by the blood donation on a regular basis or by iron chelatin that removes the iron with the use of medications. The treatment of hereditary hemochromatosis can help relieve the symptoms and to prevent the development of serious complications.
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