Hereditary hemochromatosis is a genetic disease that is the result of inheriting two defective copies of a particular gene, one from each parent. The mutation in this gene causes the intestine to absorb too much iron. Over time, usually several years, this excess iron is deposited in the cells of the liver, heart, pancreas, joints, and pituitary gland. If left untreated, organ damage can result.

Hereditary hemochromatosis is an inherited condition. It occurs when a person inherits two copies of a mutation, one from each parent. People with one copy of this mutation are carriers for the condition and usually have little or no excess accumulation of iron. It is estimated that 10% of the population are carriers for hemochromatosis. However, not all people with two genetic mutations develop signs and symptoms of the disorder during their lifetimes.

this time RPC is not believed to be hereditary, however there are several families with documented and diagnosed RPC in them. Siblings are the most commonly found grouping, although several twins only one twin developed RPC. The next factor seen is parent and child, then grandparent and child.

A simple blood test is used to diagnose people with iron overload. The test typically used for this purpose is transferrin saturation. If the initial test comes back elevated (>45%), then a repeat test is conducted after an overnight fast. If both tests are elevated, further tests are conducted to determine if iron overload is present. For more details, refer to the recommendations in the Annals of Internal Medicine Supplement, 1 December 1998, page 955.

It is estimated that 1 in every 200 - 500 people in the United States has hereditary hemochromatosis… about 1 million people. Whites of northern European descent are at highest likelihood of being affected and men are more commonly affected than women, who may be protected by iron loss through menstruation and pregnancy.

Hemochromatosis is one of the few genetic diseases for which a simple effective therapy exits. Hemochromatosis is treated by removing blood (phlebotomy) from the patient in order to lower the level of iron. There is an initial de-ironing phase, during which patients have frequent phlebotomy to remove the accumulated iron.

Hereditary hemochromatosis (HHC), or iron overload, is an inherited disorder that causes the body to absorb two to three times the normal amount of iron. Over the years, the excess iron builds up in the vital organs, joints and tissues where it can cause a number of debilitating and potentially fatal conditions such as liver and heart disease, diabetes, impotence and arthritis.

Hereditary Angioedema (HAE) is a very rare and potentially life threatening genetic condition that occurs in about 1/10,000 to 1/50,000 people. HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face, and airway. In addition, patients often have bouts of excruciating abdominal pain, nausea, and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.

Heredity does seem to play a role. Ten percent of lupus patients have a first-degree relative (sister, daughter, son, mother) or a second-degree relative (aunt, uncle, first cousin) with lupus. Therefore, 90 percent of lupus patients DO NOT have relatives with lupus. Even in identical twins, when one sibling has lupus and the other twin does not, it is believed there are environmental factors that play an important role.

No, hammertoes and bunions are caused by pathomechanics, although shoe gear can aggravate the symptoms that can cause these problems.

Research indicates that genetic factors may play a part in causing autism in some individuals. Most researchers agree that autism probably results from many separate causes.

In early stages of hemochromatosis, symptoms are non-specific and mimic a variety of other disease symptoms. Symptoms can include fatigue, palpitations, joint pain, non-specific stomach pain, and impotence, as well as loss of menstruation and infertility. Abnormalities of liver function tests can also occur in the absence of symptoms.

If there is no evidence of liver damage, you can drink alcohol moderation. Alcohol increases the absorption of iron and excessive amounts can damage the liver and cause some forms of anemia.

No; you just need to cut back on red meat while you are in the first phases of phlebotomy and trying to lower iron levels. Red meat such as beef, lamb and venison contain high amounts of heme iron, which is the type of iron most easily absorbed by the body. Chicken, fish and pork have less heme iron.

The bronzing pigmentation associated with the later stage of hemochromatosis is the only unique sign of the disorder but not every affected individual develops this complication. Unfortunately, there is no sign or symptom or constellation of signs and and symptoms specific for hemochromatosis. Because hemochromatosis symptoms mimic a variety of other diseases, the diagnosis of hemochromatosis can be missed unless specific tests (serum iron measures) are conducted.

The symptoms/complications of hemochromatosis typically occur in middle-age, but can occur earlier in some people. The disease progression appears to vary in each individual. It is possible that a substantial proportion of people with hemochromatosis remain healthy without treatment for many years, while a smaller proportion of people progress more rapidly through the course of their disease and they develop life-threatening complications early.

The Food and Drug Administration (FDA) recently announced that blood from therapeutic phlebotomies for persons with iron overload could be used for transfusion if certain criteria are met: 1) the blood collection center may not charge for the therapeutic phlebotomy and 2) the blood center must apply to FDA for exemption from existing regulations. As part of that exemption, the blood center must collect and submit specified data to the FDA.

Hemochromatosis patients do not need to avoid iron containing foods. It is strongly recommended that hemochromatosis patients NOT take vitamin-mineral dietary supplements that contain iron. Similarly, no more than 500mg of vitamin C should be consumed because Vitamin C increases iron uptake. Such patients should avoid anything else that has the potential to cause liver damage, such as alcohol consumption---more than mild alcohol consumption should be avoided.