FAQ

SYMPTOMS OF HEMOCHROMATOSIS

Iron-OverloadChronic fatigue and joint pain are the most common complaints of people with hemochromatosis. For this reason, the complete diagnosis is often delayed because these two symptoms are commonly seen in other diseases. Pain in the knuckles of the pointer and middle finger, collectively called “The Iron Fist,” is the only sign or symptom specific to hemochromatosis. However, not everyone with HHC experiences the Iron Fist.

PATIENTS OFTEN COMPLAIN OF THE FOLLOWING:

Some complain of the following symptoms, although these indicators are not always specific to hemochromatosis:
Lack of energy
Abdominal pain
Memory fog
Loss of sex drive
Heart flutters
Irregular heart beat
When symptoms are associated with hemochromatosis, these usually begin in men in their late 20’s to early 30’s. In women, symptoms usually start about 10-15 years after they stop having a period due to menopause, birth control pills, or hysterectomy. Consider using our Symptoms Log to monitor your symptoms of hemochromatosis.

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DISEASES THAT CAN DEVELOP IF LEFT UNTREATED
Bone and joint: osteoarthritis or osteoporosis in knuckles, ankles, and hips
Liver: enlarged liver, cirrhosis, cancer, and liver failure diabetes
Skin: abnormal color (bronze, reddish or ashen-gray)
Heart: irregular heartbeat, enlarged heart, congestive heart failure
Endocrine: diabetes, hypothyroidism, hypogonadism, (infertility, impotence), hormone imbalances
Spleen: enlarged spleen
Hemochromatosis can be overlooked by a doctor who is concentrating on treatment of diseases that are present in the patient. Many doctors still believe what they learned in medical school – that hemochromatosis is rare and only happens in older men. When hemochromatosis is discovered early and treated before organ damage can occur, a person can live a normal, healthy life. Any family practice physician is qualified to diagnose and order treatment for a hemochromatosis patient.

 DIAGNOSING HEMOCHROMATOSIS

If there are complications with diseased organs, the patient might need to see a specialist:
Cardiologist
Endocrinologist
Gastroenterologist
Gynecologist
Hematologist/Oncologist
Hepatologist
Internist
Rheumatologist
Urologist
Psychiatrist

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TESTS 

There are 3 tests that together make up the Iron Panel Test. These tests look at serum ferritin, Total iron binding capacity, and serum iron. These tests need to be taken as a panel, not independently, to receive a comprehensive and accurate assessment of a potential Hemochromatosis diagnosis.
SERUM IRON (SI)

This test is best conducted after fasting for at least three hours. Also, iron or vitamin C supplements should be discontinued at least three days before taking the test. Do not discontinue other medication unless your doctor tells you to.

SERUM FERRITIN (SF)

This test measures the amount of iron contained or stored in the body. Serum ferritin reference ranges are different for adults and children. For adults, the ideal range is 50-150 ng/ml.
TOTAL IRON BINDING CAPACITY (TIBC)

This test tells how well your body can bind to iron. Serum iron divided by TIBC x 100% gives you important information about the transferrin-iron saturation percentage (TS%). TS% is usually 25-35%; in some people with iron overload, the TS% is very high. There are other types of iron overload where the TS% is normal.

In the past, liver biopsy was widely used to diagnose hemochromatosis. Today, liver biopsy is not necessary to diagnose the inherited form of HHC. DNA tests are available to determine if a person has genetic hemochromatosis.

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CONFIRMING HEMOCHROMATOSIS
Genetic tests can confirm a diagnosis and help identify family members who are at risk for hemochromatosis. Most commonly, the genetic test is performed with a cheek swab.

WHAT CAUSES HEMOCHROMATOSIS?
Type I hemochromatosis is caused by defects (mutations) in the HFE gene. HFE has many purposes, but one important role is that it helps to control the amount of iron that is absorbed from food. There are several known mutations in the HFE gene, but presently testing for only three is available: C282Y, H63D, and S65C.

Everyone inherits two copies of HFE, one from Mom and one from Dad.

When a person has one mutated copy, he or she is called a carrier or heterozygote. When a person has two of the same mutated copies, he or she is called a homozygote. When a person has two different – but mutated – copies, he or she is called a compound heterozygote.

Genetics can be very difficult to understand at first. What is most important is that you know which gene combination causes the greatest known risk of loading iron.
MOST AT RISK

C282Y homozygote and the C282Y/H63D compound heterozygote

MODERATE RISK

H63D homozygote or other compound heterozygote combinations

LOW RISK

C282Y heterozygote (carrier); H63D heterozygote (carrier) or S65C heterozygote (carrier)
Risk can be modified by other genes, the environment, or unknown factors. Therefore, anyone with a mutated copy of HFE should periodically ask their doctor to check iron levels through hemoglobin, fasting serum iron, TIBC, and serum ferritin.

TREATMENT

It is very important to get iron levels down to normal. Therapeutic blood removal, or phlebotomy, is the most common means of iron reduction. Therapeutic phlebotomy (TP) is the same as regular blood donation but TP requires a doctor’s order (prescription).

Regular blood donation can be done every 8 weeks. A person with severe iron overload may need to give blood as much as 8 times in a single month! The goal is to bring blood ferritin levels to an ideal range of 50-150ng/mL. Depending on the amount of iron overload at the time of diagnosis, reaching normal levels can require several phlebotomies.

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Serum ferritin drops about 30ng/mL with each full unit (500cc) of blood removed. When ferritin falls more rapidly following a phlebotomy, there is likely some other reason for the fast rate other than the blood donation. These reasons are specific to the individual but can include the presence of inflammation, changes in alcohol consumption, or changes to medication.

Once iron levels reach normal, a person can begin maintenance therapy, which involves making a blood donation every 2 to 4 months for life. Some people may need to give blood more or less depending on what they eat and how quickly their body absorbs iron.

The TS% and serum ferritin tests can be done periodically to help determine how often blood should be removed.

When hemochromatosis is diagnosed early and treated before organs are damaged, a person can live a normal life expectancy. For people who have the disease at the time of diagnosis, life expectancy may be shortened depending upon the disease. If a person is diagnosed and treated before serum ferritin is above 1,000ng/mL the risk of cirrhosis or liver cancer is less than 1%.

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DIET

FOLLOWING A HEMOCHROMATOSIS-FRIENDLY DIET
Humans consume two types of iron: heme and non-heme. Heme iron is the most easily absorbed form of iron. Highest in heme iron is red meat such as beef, venison, lamb, and buffalo. Additionally, blue fin tuna is higher in heme iron than most other types of fish. All meat and fish also contain non-heme iron, which is found mostly in vegetables, fruits, nuts, grains, and most over-the-counter iron supplements.

Achieving Iron Balance with Diet

If a person has abnormally high body iron levels, he or she will want to consume foods or substances that lower the amount of iron absorbed.

Substances that increase iron absorption: (avoid and/or moderate consumption)

Ascorbic acid or vitamin C occurs naturally in vegetables and fruits, especially citrus. Ascorbic acid can also be synthesized for use in supplements. Ascorbic acid enhances the absorption of nutrients such as iron. In studies about effects of ascorbic acid on iron absorption, 100 milligrams of ascorbic acid increased iron absorption from a specific meal by 4.14 times.

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Alcohol

Although alcohol can enhance the absorption of iron, no one is encouraged to drink alcohol as a means of improving iron status. Moderate consumption of alcohol has known health benefits but heavy or abusive drinking, especially when in combination with high body iron levels increases the risk for liver damage, liver cancer and blood cell production. Approximately 20-30% of those who are heavy consumers of alcohol acquire up to twice the amount of dietary iron as do moderate or light drinkers, but alcohol abuse increased the risk of liver disease such as cirrhosis. A standard drink is defined as 13.5 grams of alcohol: or 12oz beer, 5oz wine, 1.5oz distilled spirits. Moderate consumption is defined as two drinks per day for an adult male; one drink per day for females or those older than 65 regardless of gender.

Beta-Carotene

is one of more than 100 carotenoids that occur naturally in plants and animals. Carotenoids are yellow to red pigments that are contained in foods such as apricots, beets and beet greens, carrots, collard greens, corn, red grapes, oranges, peaches, prunes, red peppers, spinach, sweet potatoes, tomatoes, turnip greens and yellow squash. Beta-carotene enables the body to produce vitamin A. In studies of the effects of vitamin A and beta-carotene on absorption of iron, vitamin A did not significantly increase iron absorption under the experimental conditions employed. However, beta-carotene significantly increased absorption of the metal. Moreover, in the presence of phytates or tannic acid, beta-carotene generally overcame the inhibitory effects of both compounds depending on their concentrations. Like vitamin E, beta-carotene is an excellent anti-oxidant, but one should take any of these judiciously. Studies have shown that taking vitamin A habitually in amounts of 25,000 IU can cause liver problems, and that taking supplemental beta-carotene can enhance the progression of some cancers. The best source of these nutrients is whole foods.

Additive iron:

EDTA+fe and Ferrochel?are additive iron compounds and are emerging as candidates for fortification by major food manufacturers. Both additives were found to exceed absorption capabilities of the commonly used fortificant ferrous sulfate.

Hydrochloric acid

Hydrochloric acid (HCI) present in the stomach, frees nutrients from foods so that they can be absorbed.

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Meat

Especially red meat increases the absorption of nonheme iron. Beef, lamb and venison contain the highest amounts of heme as compared to pork or chicken which contains low amounts of heme. It has been calculated that one gram of meat (about 20 percent protein) has an enhancing effect on nonheme iron absorption equivalent to that of 1 milligram of ascorbic acid. A Latin American-type meal (maize, rice, and black beans) with a low iron bioavailability had the same improved bioavailability when either 75 g meat or 50 mg of ascorbic acid was added

Sugar

As part of the Framingham Heart Study, a National Institutes of Health project, investigators looked at the factors that increased iron stores such as diet and iron supplementation. Participants included more than six hundred elderly patients. Those who took supplemental iron along with fruit had higher iron stores, some as much as three times. No one is encouraged to consume sugar to improve iron absorption. Too much sugar can lead to other health problems, such as obesity and diabetes. Refined white sugar has no nutritional value except calories. However, eating fruits or adding honey or black-strap molasses to foods such as cereals can boost iron absorption and add nutrients that are lacking in refined sugar.

Nicotine Products:

Smoking cessation gums can increase serum ferritin levels

Substances that impair iron absorption:

Medications that reduce the amount of acid in the stomach such as antacids or proton pump inhibitors can lead to hypochlorhydria (low stomach acid) or achlorhydria which is the complete absence of stomach acid.

Calcium (like iron) is an essential mineral, which means the body gets this nutrient from diet. Calcium is found in foods such as milk, yogurt, cheese, sardines, canned salmon, tofu, broccoli, almonds, figs, turnip greens and rhubarb and is the only known substance to inhibit absorption of both non-heme and heme iron. Where 50 milligrams or less of calcium has little if any effect on iron absorption, calcium in amounts 300-600 milligrams inhibit the absorption of heme iron similarly to nonheme iron. One cup of skimmed milk contains about 300 milligrams of calcium. When calcium is recommended by a healthcare provider, as is often the case for women trying to prevent bone loss, these supplements can be taken at bedtime. Calcium supplements are best taken with vitamin D and in a citrate rather than carbonate form.
Eggs contain a compound that impairs absorption of iron. Phosphoprotein called phosvitin is a protein with a iron binding capacity that may be responsible for the low bioavailability of iron from eggs. This iron inhibiting characteristic of eggs is called the “egg factor”. The egg factor has been observed in several separate studies. One boiled egg can reduce absorption of iron in a meal by as much as 28%
Oxalates impair the absorption of nonheme iron. Oxalates are compounds derived from oxalic acid and found in foods such as spinach, kale, beets, nuts, chocolate, tea, wheat bran, rhubarb, strawberries and herbs such as oregano, basil, and parsley. The presence of oxalates in spinach explains why the iron in spinach is not absorbed. In fact, it is reported that the iron from spinach that does get absorbed is probably from the minute particles of sand or dirt clinging to the plant rather than the iron contained in the plant.

Polyphenols are major inhibitors of iron absorption. Polyphenols or phenolic compounds include chlorogenic acid found in cocoa, coffee and some herbs. Phenolic acid found in apples, peppermint and some herbal teas, and tannins found in black teas, coffee, cocoa, spices, walnuts, fruits such as apples, blackberries, raspberries and blueberries all have the ability to inhibit iron absorption. Of the polyphenols, Swedish cocoa and certain teas demonstrate the most powerful iron absorption inhibiting capabilities, in some cases up to 90%. Coffee is high in tannin and chlorogenic acid; one cup of certain types of coffee can inhibit iron absorption by as much as 60%. These foods or substance should not be consumed within two hours prior to and following your main iron-rich meal
Phytate is a compound contained in soy protein and fiber. Even low levels of phytate (about 5 percent of the amounts in cereal whole flours) have a strong inhibitory effect on iron bioavailability. Phytate is found in walnuts, almonds, sesame, dried beans, lentils and peas, and cereals and whole grains. Phytate compounds can reduce iron absorption by 50 to 65 percent.

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Diet for Iron Balance

When iron is appropriately distributed throughout the body in hemoglobin, muscles, ferritin and elsewhere, your diet should be geared toward continued iron balance and disease prevention. Fresh fruits, vegetables, whole grains, adequate protein, limited dairy, limited fats and sugars form the basis for a good eating plan that will assure adequate iron and lower the risk of disease.

Healthy diet checklist will include:

Fresh fruits and vegetables which provide natural hydration and a supply of antioxidants
Whole grains which provide fiber needed to keep the digestive tract clean
Adequate protein which builds muscle
Limited dairy which can cause mucous in the intestines
Limited animal fats which can trigger free radical damage. Eat healthy fats found in olive oil, cold water salmon, avocados and nuts
Limit processed sugars which contain empty calories and trigger free radical damage.
Whenever possible, consume whole foods as opposed to “foods in a pill”. Our bodies are not geared to large doses that tax the liver and knock other nutrients out of balance.
Get at least 20 minutes of physical activity a day; walk or take at least 10,000 steps if you can.
NOTE: Individuals with hereditary hemochromatosis should not consume raw shellfish

Research information used with permission of Iron Disorders Institute