Hemochromatosis is an inherited condition of abnormal iron metabolism; it is not a blood disease. This disease is the result of an abnormality, usually a single site mutation, in the HFE gene, which is located near the HLA complex and produces a glycoprotein. It is the main iron overload disorder. Signs and symptoms of hereditary hemochromatosis usually appear in midlife, although they may occur earlier. The most common complaint is joint pain, but hereditary hemochromatosis can also cause a number of other symptoms, including fatigue, abdominal pain and impotence. It is characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. Individuals with hemochromatosis absorb too much iron from the diet. Genetic or hereditary hemochromatosis is mainly associated with a defect in a gene called HFE, which helps regulate the amount of iron absorbed from food. It is a disorder that interferes with iron metabolism, which results in too much iron in the body.If left untreated, hereditary hemochromatosis can result in the progressive accumulation of iron in the liver, pancreas, heart, joints, and pituitary gland leading to potentially serious complications including cirrhosis of the liver, diabetes, and heart problems. Primary hemochromatosis (also termed hereditary hemochromatosis or idiopathic hemochromatosis) is an autosomal recessive disorder.



The genetic defect of hemochromatosis is present at birth, but symptoms rarely appear before adulthood. Type I Hemochromatosis is also called classic hemochromatosis is due to mutations of HFE, a gene located on chromosome 6. A person who inherits the defective gene from both parents may develop hemochromatosis. If hereditary hemochromatosis is suspected, your doctor will order a genetic blood test to look for the HFE mutation that is responsible for the disorder. Hemochromatosis is also known as iron overload, bronze diabetes, hereditary hemochromatosis and familial hemochromatosis. Most people with hereditary hemochromatosis show no signs of the illness until they are middle-aged. They might have only mild signs, like tiredness, or they might have arthritis or impotence. HFE interacts with the transferrin receptor and causes a clear decrease in the affinity with which the receptor binds transferrin. This interaction also may modulate cellular iron uptake and decrease ferritin levels. Patients who receive multiple blood transfusions also develop iron overload, occasionally termed hemosiderosis or secondary hemochromatosis. In rare cases, iron overload begins before birth. These cases are called neonatal hemochromatosis.

Causes of Hemochromatosis

The common causes and risk factor's of Hemochromatosis include the following:

Hereditary hemochromatosis can occur when a person inherits two mutated copies of a gene called the HFE gene- one from each parent. Men and women have the same chance of inheriting two copies of this gene.

People who inherit the HFE gene mutation from both parents.

Certain anemias, such as thalassemia and aplastic anemia.

It can also result from blood transfusions and over consumption of dietary iron, especially among people with a genetic predisposition to accumulate iron.

Bronze colored skin.

Hereditary hemochromatosis is passed by an autosomal recessive trait on the genes.

Chronic liver disease, such as hepatitis, alcoholic liver disease, or nonalcoholic steatohepatitis (?steato? means ?fatty?).

Symptoms of Hemochromatosis

Some sign and symptoms related to Hemochromatosis are as follows:

Chronic fatigue.

Loss of drive (libido) or impotence.

Abdominal pain.

Arthritis.

Depression, disorientation, or memory problems.

Early menopause.

Abnormal pigmentation of the skin, making it look gray or bronze.

Thyroid deficiency.

Damage to the adrenal gland.

Liver disease, including an enlarged liver, cirrhosis, cancer, and liver failure.

Damage to the pancreas, possibly causing diabetes.

Treatment of Hemochromatosis

Here is list of the methods for treating Hemochromatosis:

Doctors can treat hemochromatosis safely and effectively by removing blood from your body (phlebotomy) on a regular basis, just as if you were donating blood.

Treatment involves the removal of 500 milliliters (about 15 ounces) of blood weekly until normal plasma iron levels are established.

Once iron levels return to normal, maintenance therapy, which involves giving a pint of blood every 2 to 4 months for life, begins. Some people may need it more often.

Avoid taking vitamin C supplements, especially with food. Vitamin C increases absorption of iron. Try to drink vitamin C-rich juices, such as orange juice, between meals.

Another approach to treatment is called chelation therapy, in which a medication called deferoxamine (Desferal) binds to iron, removing it from the body and lowering the amount of stored iron.

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