Hereditary Hemochromatosis

Hereditary hemochromatosis (HH) is a genetic disorder commonly known as the iron overload disease; the body is caused to absorb and store excessive amounts of iron. It is most prevalent in locations with significant populations of people who derive from Northern European descent. HH is found to be is the most common inherited liver disease in Caucasians and the most common autosomal recessive genetic disease. The most common gene involved in causing Hereditary Hemochromatosis is the HFE gene.

Two mutations of the HFE gene, known as C282Y and H63D, were found to be associated with the increased absorption and storage of iron that is characteristic of hereditary hemochromatosis.

Because hereditary hemochromatosis is an autosomal recessive disorder, in order to develop the disorder or be considered at high risk for developing hereditary hemochromatosis, an individual must acquire both copies of either of these mutated genes, one from each parent. “In the United States about one million people have the disease, usually because of a gene mutation.

(CDC) “1 in every 8 to 10 people in the United States carries a single copy of this defective gene, called HFE whereas carriers don’t necessarily have the condition themselves, but can pass the mutated gene on to their children. ” (OakRidge) In addition to the genetic mutations of the HFE gene, other factors that may increase the risk of developing hereditary hemochromatosis include: having two copies of a mutated HFE gene, family history of hemochromatosis, family history of liver disease, family history of type II diabetes, and Northern European (Celtic) descent.

Though hemochromatosis is not curable at the present time, the combination of early diagnosis and treatment can effectively reduce the body’s iron overload, prevent organ damage, and enable patients to lead normal and productive lives. If left untreated, progressive accumulation of iron in the liver, pancreas, heart, joints, and the pituitary gland can lead to potentially serious and life-threatening diseases such as: formation of scar tissue on the liver, liver failure, arthritis, arrhythmia, or liver cancer.

Early symptoms of HH are nonspecific but may include severe weakness or fatigue, unexplained joint or abdominal pain, signs of liver disease, diabetes, or heart problems, impotence, infertility, and loss of menstrual periods. Iron absorption begins when ingested iron is changed by acids in the stomach into a form that can be absorbed into the duodenum and is then bound to a protein in the blood called transferrin. Transferrin transports the iron to tissues, organs, and bone marrow so that the normal process of metabolism can take place.

When saturated with too much iron, it cannot effectively keep the iron molecules bound to it. The unbound iron molecules inevitably become free to circulate in the body. Free iron molecules are the cause of cell death and are destructive to body tissue and organs. Classic biochemical features of hemochromatosis include elevated levels of serum ferritin levels and serum transferrin saturation percentage. There are two proteins, specifically ferritin and transferrin that play a key role in the body’s ability to store and distribute iron and are dysfunctional in people with hereditary hemochromatosis.

Ferritin binds to iron and stores iron not needed for immediate use. Therefore the amount of ferritin in the blood, known as the serum ferritin level, is directly proportional to the amount of iron stored in the liver. Transferrin is a carrier protein synthesized in the liver that transports iron in the bloodstream to red blood cells in all tissue. Transferrin saturation is the ratio of serum iron to the total iron binding capacity of transferrin. Fortunately, the damage from hereditary hemochromatosis is preventable if diagnosed and treated early.

Doctors may use these blood tests to measure the amount of iron in the blood and diagnose iron overload, commonly referred to as an iron profile: • Serum iron levels • Total iron-binding capacity • Fasting serum transferrin saturation • Serum ferritin With these results, a transferrin saturation percentage is calculated by dividing the TIBC into the serum iron. An elevated transferrin saturation percentage or serum ferritin level indicates iron overload. Serum Iron This test is a measurement of the quantity of iron bound to transferrin.

Transferrin is a protein that iron binds to in the body. (Normal results 40-180 micrograms/dl) TIBC Total Iron Binding Capacity (TIBC) indirectly measures the levels of transferrin in the bloodstream. TIBC is a measurement of all proteins available for binding mobile iron. (Normal results 250-450 micrograms/dl) Transferrin Saturation Transferrin saturation is calculated by dividing the serum iron level by the TIBC. The result indicates the percentage of transferrin and other iron binding proteins saturated with iron. (Normal results 25-35%) www. hemochromatosis. org/php. pdf

Early diagnosis and treatment by phlebotomy or de-ironing often results in considerable improvement in the health of patients. Treatment may be able to prevent, delay, or sometimes reverse complications of the disease. Initially, blood may be drawn once or twice weekly during the de-ironing phase until the level of iron in the body has dropped to normal. In many cases, it requires 2 or 3 years of periodic phlebotomy to reach the desired level. After the de-ironing phase, when the serum ferritin level has fallen into the normal range, the patient usually remains on a maintenance schedule of three to four phlebotomy sessions a year.

Doctors check ferritin levels annually to monitor iron accumulation. For most people, this treatment will continue for life. When the diagnosis of hemochromatosis is made it is important to adjust the diet so that too much iron is not being absorbed because of an improper diet. The biggest considerations are not to take medications which contain iron, consume too much alcohol, or Vitamin C. Understanding the mechanisms involved in iron metabolism is important to understanding HH and the diseases and conditions attributable to iron overload. The U. S. Centers for Disease Control and Prevention (CDC) reports that most patients visit three doctors before being correctly diagnosed with hereditary hemochromatosis. Treatment of iron overload disorder is critical in order to prevent damage to vital organs and serious complications such as cirrhosis of the liver. Phlebotomies, the standard treatment, are generally regarded as a safe and effective means for removing iron from tissues and preventing complications. For people who are diagnosed and treated early, normal life spans are possible. If left untreated, hemochromatosis can lead to severe organ damage and even death.

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