Hemochromatosis

Hemochromatosis (iron overload, bronze diabetes, hereditary hemochromatosis, and familial hemochromatosis) is inherited blood disorder (disease) causes the body to absorb and store too much iron. In the United States, hemochromatosis is one of the most common genetic disorders. Also, caused by pre-cancerous animas, chronic alcoholism and other conditions. In many foods iron is an essential nutrient. Mostly iron is found in red meats, iron-fortified bread and cereal. Iron is part of the hemoglobin (oxygen carrying molecule of the red blood cells). Approximately ten percent of iron is absorb from food in healthy people. People that have hemochromatosis absorb more iron than the body needs or about twenty percent more is absorb from food. The body has no natural method to remove excessive iron, except to store it in body tissues, especially in the liver and pancreas. Also, excessive amount of iron is accumulated in the endocrine glands, heart, skin, joints, and intestinal lining. Excessive amount of iron can damage organs, which can fail to function, if not treated. (If treated and diagnosed before organ failure or damage, a person can live a normal healthy life.) Most notably cause cirrhosis of the liver (chronic liver disease. Inability of the liver, manufacture proteins, and process hormones, nutrients, medications, and poisons. Estimated approximately five percent of cirrhosis cases are caused by hereditary hemochromatosis. Eventually, cirrhosis can become life threatening). Also, serious complications Includes: Liver cancer, and heart failure. Unfortunately, hemochromatosis is often misdiagnosed and untreated by 67 percent, according to Centers of Disease Control and Prevention, because it mimics symptoms of many other diseases, including: Heart disease, liver disease or diabetes.

Approximately 1.5 million people in the United States have iron overload. Hemochromatosis affects men five times more frequently than women. Women are diagnosed later in life, because of blood loss from menstruation and childbirth. Females develop symptoms usually after menopause. Men that are diagnosed having excess iron will develop symptoms at a younger age. Takes many years for the body to accumulate excessive amount of iron, which is detectable in those between 40 – 60 years old.

Most common genetic disorder is hemochromatosis. Approximately one in nine individuals have one abnormal hemochromatosis gene (Eleven percent of the population) called HFE, which regulates the amount of iron absorbed from food (Discovered in 1966 by a team of scientists in California.). Known to be two mutations in HFE, named C282Y and H63D. More common is C282Y. In the United States, about five people in 1,000 carry two copies of the mutated HFE gene and are susceptible to develop iron overload. When C282Y is inherited from both parents then hemochromatosis can result. However, when one parent has H63D and the other parent has C282Y gene, rarely causes hemochromatosis to be inherited. Inheriting C282Y gene becomes a carrier of the diseases, but may have a slight increase in iron overload or absorption. In African Americans, Asian Americans, Hispanic Americans and American Indians are less likely to inherit hemochromatosis. Commonly found in Caucasians of western European descent. Also, those that have arthritis especially in the first two knuckles of the hand (iron fist). Relatives of family members (brothers, sisters and parents) that have hemochromatosis should be tested to check if the disease is present or are carriers.

Genetic testing or molecular analysis is available or online, which can detect the mutation gene HFE. However, if confirmation of the inherited gene is detected, and information then obtained by a health insurance company, the policyholder could be denied coverage or cancellation of the policy. Also, information could potential cause discrimination for employment.

Juvenile and neonatal hemochromatosis is not caused by a defect HFE gene. Currently, the cause for both types of iron over load is unknown. However, maybe proven in the future neonatal hemochromatosis is caused by anomaly, when iron is transferred through the placenta. Young adults between 15 – 30 years olds, neonatal or newborn infants developing hemochromatosis, develop liver and heart disease.

Symptoms of hemochromatosis includes: Fatigue, loss of energy, abdominal pain, heart problems (palpitations), shortness of breath, impotence, early menopause, hair loss, and thyroid deficiency. Also, Changes in the pigment of the skin, may appear grayness in certain areas, tanned or yellow (jaundice). Sometimes, a patient may spit blood from the lungs or bronchial tubes. In men ages between 30 – 50 and women over 50 symptoms tend to occur. Some people may develop symptoms by age 20. Often, when diagnosed no symptoms have developed.

Diagnosing hemochromatosis by undergoing various blood tests. Transerrin saturation test is an early detection of this disease, and evaluates how much iron is bound to the protein, which carries iron in the blood. The total binding capacity test (TIBC) measures how well the blood transports iron. Serum ferritin test indicates the level of iron in the liver (deficiency or overload). Normal tsat% (transferring iron saturation percentage) is 25 – 35 percent. If the tsat% is greater than 45 percent, indicates iron overload. Upon confirmation of increased level of iron in the blood, a special test blood test would be conducted, detecting for the presence of the HFE mutation gene, confirming the diagnosis of hemochromatosis. Furthermore, an MRI and liver biopsy (Under local anesthesia, a needle will extract a small amount of liver tissue, which will microscopically be analyzed.) maybe necessary, evaluating the extent of iron accumulation and any damage.

Treating hemochromatosis by a process called phlebotomy (Bloodletting – Oldest medical practice). The same procedure done when donating blood, and takes about 30 minutes. Depending on the extent or amount of iron in the blood, once or twice a week for several months or up to a year, a pint of blood is removed. Each unit of blood removes 250 milligrams of iron. Follow up serum ferritin tests will monitor the level of iron. Once normal level of iron is detected in the blood, maintenance therapy requires giving a pint of blood every two to four weeks for life, and in some cases, more blood maybe taken more often. Early diagnosis and treatment can prevent liver disease or stop the progression of liver disease. If cirrhosis of liver develops, lead to developing liver cancer. Those diagnosed with hemochromatosis should avoid taking any iron supplements, vitamins, should not drink alcoholic beverage, avoid excess amount of vitamin C, uncooked seafood, and using iron cookware, cause further damage to the liver. Additionally, diet restrictions may lower the amount of iron in the blood, but has no effect on prevention or treatment. Patients that are anemic or have a history of cardiovascular disease should consult their physician, before beginning treatment. The Food and Drug Administration permits blood taken from hemochromatois patients to be donated for transfusions, providing the blood donation facility agrees to certain set of criteria, includes: The blood collection center does not charge for the providing this blood for transfusion, and apply to FDA for certain exemptions.

Available are hemochroatosis centers that specialize providing treatment.

American Hemochromatosis Society Incorporated
4044 West Lake Mary Boulevard
Unit #104, PMB 416
Lake Mary FL, 32746-2012
Phone: 1-888 – 655-IRON (4766) or 407 – 829 – 4488
Fax: 407 – 333 – 1284
Email: mail@americanhs.org