Please note: This information has been compiled with the advice of leading doctors/researchers as well as HH patients themselves. This information is based on the following premise that this is the information we would give to a family member, where "money was no object", and the latest information on health options was wished. Through this premise, the most thorough and aggressive health care can be suggested. Each patient should confer with his/her physician about their own health care. If a physician does not regularly treat HH patients, he/she should consult with a medical expert. AHS can provide such experts.   Sandra Thomas, President, American Hemochromatosis Society

Q: What is iron overload, hemochromatosis?

Q: Can iron overload be acquired?

Q: How common is iron overload/hemochromatosis?

Q: Who is affected by iron overload/hemochromatosis?

A: The excess iron injures body organs and KILLS unless detected in time for adequate iron storage removal. It is a very serious disease, but quite benign if detected early before organ damage has occurred. That is why routine screening is so important. HH is a lethal but treatable disease. Don't let anyone tell you that iron overload/HH is "nothing to worry about". The higher the ferritin level, the potential for serious organ damage is increased.  An early diagnosis offers the patient a normal life span.

A: Yes. Hereditary hemochromatosis is one of the few genetic diseases which has a prevention plan so that all organ damage and premature death can be completely prevented. When the excess iron IS detected EARLY and is ADEQUATELY removed, the individual can enjoy a normal life span in normal health. The motto of the American Hemochromatosis Society is: "Prevention through Genetic Testing".

A: Patients can have iron overload and NOT have symptoms (asymptomatic) and that is the best time to diagnose the patient. Many doctors have been taught to look for "signs and symptoms" of HH but by the time symptoms appear, it is often too late to save the patient's life. Iron overload and storage in vital body organs can damage and may cause:

A: Blood banks do NOT screen for iron overload/hemochromatosis. They are basing their comments on the hematocrit or hemoglobin readings that they take prior to a blood donation (the finger prick test) and these are not the correct tests for iron overload storage! Yet blood banks continue to give out false information to their clients, telling them that they have low "iron" or even in some cases that their iron is high! The iron-overloaded person may be anemic at the same time. There are several types of anemia that are iron-loading! Hematocrit and hemoglobin are NOT tests for iron overload/hemochromatosis; ask your physician to test you with transferrin saturation (TS) which is calculated by dividing the serum iron by the TIBC (total iron binding capacity) and serum ferritin to confirm or rule out iron overload.

A: A simple series of blood tests which can be performed by any doctor or lab can indicate iron levels. They must be proper iron measures: Total Iron Binding Capacity (TIBC) together with Serum Iron. Divide TIBC into Serum Iron to get the percentage of transferrin saturation also known as % of saturation.. It is important that the serum ferritin is also performed at the same time and it should be done, if possible, while fasting. Refrain from iron pills for a week prior to the tests. A new test, serum ferritin-iron assay may also be available in the near future. The discovery of the hemochromatosis gene was announced in August 1996 by Mercator Genetics Inc. of Menlo Park, California (which was purchased by Progenitor in 1997. Bio-Rad Laboratories of Hercules, CA bought the patent from Progenitor. Bio-Rad currently holds the patent to the HFE mutation). The new genetic DNA test (HLA-H now known as HFE or HFe) has been commercially available from many labs around the nation since 2/1997, including SmithKline Beecham Clinical Laboratories currently known as Quest Diagnostics on a nationwide basis. Many university labs and other smaller independent genetics labs across the nation now offer DNA testing for HH.  In the early years, many of them only tested for the one mutation (845A also known as Cys282tyr), but today most labs test for BOTH HH mutations (845A and 187G also known as cys282 and his63).  There is a 3rd gene mutation, 65S which is not considered to be very significant in loading and storing iron, however, it is now included in many labs' testing protocols.  Several labs test for all three gene mutations and offer a handy "cheek brush" tissue collection kit or saliva test kit which collects saliva in a tube, which you can get through the mail and perform in the privacy of your own home.  AHS president, Sandra Thomas, and Annette Taylor, PhD, president of Kimball Genetics, Denver, Colorado, partnered to offer the public a home test kit which patients could order themselves, without a doctor's order.  This method of genetic testing revolutionized the DNA testing format and helped many patients to get the life saving information that they needed and ultimately a diagnosis. The "cheek brush" method (no needles/blood/pain) is great for kids and adults. More info on how to order these tests is available from the AHS office at 407-829-4488.  If you wish to get genetic DNA testing without using a doctor or having the results on your medical records, you may contact Gene Track.  HealthCheckUSA (www.healthcheckusa.com) used to offer the Kimball Genetics DNA test kit but do not any longer.   They only offer blood tests for the iron levels. or call on their toll free number: 1-800-929-2044, to order the percent of saturation and serum ferritin. The results are private and confidential and are mailed directly to the patient, thusly protecting the patient's medical information.  You may contact the lab directly for current prices.  Sometimes genetic counselors are available to patients as part of the cost of the testing.  Ask the lab you select about this service.  Two other labs which offer genetic testing are: 23and me (www.23andme.com) which tests for three gene mutations for HH, and which gives the patient raw data but not an interpretation for $99.00 (although the price is right, it is very frustrating for patients to try to interpret the results, therefore, we recommend at this time that patients contact GeneTrack (www.hemochromatosisdna.com) which offers a discounted price of $156.00.  Be sure to ask for that price.   The American Hemochromatosis Society strongly urges patients and their family members (male and female) to be genetically tested, including children, teens, young adults and seniors.  If you have a question about your genetic testing, feel free to contact the AHS office directly for more information. 

A: First of all, always get copies of your medical lab reports for your home medical file and review them yourself. Make sure that the serum iron, TIBC, and serum ferritin tests are on the report and double check to make sure that you fall into the "safe zone" set by AHS--a ferritin under 150 and a saturation percentage of under 40%. Some labs have very "high" normal levels and you might not really be in a safe zone. Many patients have contacted us who have iron studies in the "danger zone" but their doctors have told them that they are fine. It is prudent to find out for yourself. The same philosophy applies to the DNA test--make sure you get copies of the report for your own files and know if you have the single or double mutation and which of the two mutations you carry (you can even carry one of each mutation which would make you known as a compound heterozygote).

David Snyder, vice president of the American Hemochromatosis Society, greets Victor Herbert, MD at the AHS exhibit booth at the ASH (American Society of Hematology) convention.

Q: I have had the correct tests for iron overload and I have low iron; should I worry and should I take iron pills?

Q: I've had the iron profile tests, read them myself and they were within the normal range; do I need to be retested ever again and/or have the DNA genetic test, especially since I feel fine?

Q: What iron levels are considered "suspicious" for iron overload/hemochromatosis?

Q: How is a diagnosis for iron overload/hemochromatosis confirmed?

Q: What will a CT/MRI or Ultrasound (US) show?

Q: My doctor says I must have a liver biopsy to confirm a diagnosis of hemochromatosis and won't treat me until I have it done. My brother has HH and he didn't have a liver biopsy and began treatment immediately after diagnosis which was successful. What does this mean?

A: A liver biopsy has been used as the "gold standard" by many physicians for decades to confirm a diagnosis of hemochromatosis. It will show your "hepatic iron index" (HII) or how much actual iron is in your liver tissue, a popular storage site for iron in the hemochromatosis patient. In the past, a patient was determined to be a "carrier" or a double gene mutation patient based on how much iron was in their liver. This was, of course, "educated guessing" because a liver biopsy is NOT a genetic DNA test and cannot in any way tell you if you have any of the mutations now known to affect iron metabolism in HH patients. With the advent of the DNA genetic test, doctors are now able to definitively determine a patient's genetic status with or without the liver biopsy, making using the liver biopsy as a means of diagnosis rather obsolete in most cases. The liver biopsy is an invasive procedure and does have morbidity and mortality (injury and death) in a small percentage of procedures. The chance of internal bleeding during or after this procedure has, in some cases, resulted in death of the patient. The advantage of the liver biopsy is that it alone can determine if a patient has cirrhosis of the liver and/or other liver diseases and to what extent. The determination of liver cirrhosis helps the doctor to make a more accurate prognosis for the patient since liver cirrhosis may (not always, but may) lead to liver cancer (hepatoma) at a later date. This prognosis, however, does not alter the treatment plan for HH. Patients with liver cirrhosis can be followed carefully to watch for any medical problems and annually tested with the alpha fetoprotein blood testing to detect early cancer of the liver when it might be surgically removed. The liver biopsy alone is not a good test to detect liver cancer as the sample may be benign but another section of the liver may have a tumor, hence the importance of having an ultrasound, CT, or MRI or PET scan of the liver to rule out hepatoma in all HH patients. The liver biopsy should be discussed in detail with the physician before deciding to have this procedure done. Also, in the cases of early diagnosis (lower iron levels, no elevated liver enzymes, patient is asymptomatic (no symptoms), young or a child, many physicians now feel that the liver biopsy is not necessary as the liver is probably not damaged and the confirmation of hemochromatosis can be made through the new DNA genetic test. The treatment is the same for the patient whether or not liver cirrhosis is present. The liver biopsy is also an expensive procedure, making it a problem for patients without health insurance.

Q: What are my chances of having liver cancer as a result of having hemochromatosis?

A: Drug chelation (Desferal) for iron overload is not a simple pill or shot that will remove iron from the body. Desferal must be administered through injection or a "pump" over many hours each day and the drug also has side effects. It is also not as effective or as fast as bloodletting/phlebotomy, so those iron overloaded patients who are able to be bled are considered to have a great medical advantage over those who must be treated with the drug.  There is a new drug called, ExJade, which is a pill.  These methods do have side effects, yet, there is a lot of hope that ExJade, an oral chelator, will gain popularity, especially among those patients with transfusional iron overload and iron loading anemias, who cannot be bled or have therapeutic phlebotomy (bleedletting).  ExJade is also very costly.  Talk to your insurance company and/or the drug company about coverage and/or free samples of the drug.

Q: What is the cost of treatment? Will my insurance pay for this?

Q: How often should I be treated?

Q: How long do I have to have the treatments done?

A: Serum ferritin is a test which not only determines iron in the body but also inflammation. A body with excess iron is usually inflamed, to varying degrees from patient to patient. As the toxic levels of iron are removed from the body, the inflammation is also reduced, and in some cases, much of the high number in the serum ferritin test reflects inflammation and when the iron is removed, it "relieves" the body of this "irritant" which is reflected in a sudden drop in the ferritin level. It may later even out and drop more steadily, or drop suddenly again on several different occasions. Sudden drops in ferritin do not always happen, however, if they do, it can be considered normal during the treatment of the HH patient.

Q: How will I feel after so many phlebotomies? Are their side effects?

A: The symptoms of iron overload/hemochromatosis sometimes can be improved or even reversed (i.e., a woman infertile from hemochromatosis and told to adopt a child was diagnosed, treated and now has a biological child). Treatment, however, should continue, for the rest of the patient's life, usually at a rate of three or four phlebotomies per year, although this rate can differ slightly from patient to patient. Aggressive, weekly phlebotomy will eventually remove the stored iron in the body, however, the iron will once again accumulate if regular phlebotomy is not maintained for the rest of the patient's life. Remove that stored iron as safely and quickly as possible and keep it out with regular phlebotomy for the rest of your life! Remember, once you are "de-ironed", don't stop! Bloodletting is for life and if you don't regularly have blood removed, the iron will simply build up again and store in vital organs. Note: if iron overload is due to "acquired hemochromatosis" through iron pill ingestion for instance, then once deironed, the treatments can stop permanently.

A: First of all, if you have a fear of needles, you are not alone. Phlebotomy (bloodletting) is the safest and most effective way to treat iron overload and prevent the damage and premature death of the patient. Phlebotomy is much more effective than drug treatment which is cumbersome and has side effects. Yes, there are needles, but there are some "tricks" that you can use. Some nurses use lidocaine on the arm (EMLA creme) before the procedure to make needle insertion more comfortable (ask your doctor for a prescription for EMLA); some patients put hot compresses on the arm to help make it more "ready" for the treatment followed by a cold pack afterwards; others put vitamin E on the arm where the needle will go several hours before the procedure (do this to both arms since you don't know each time which arm will be used). Getting a phlebotomist (nurse or person who does the bloodletting procedure) with whom you can work well and feel comfortable is very important, too. If you find such a person, request him/her each time, learn their schedule, and you will probably have a better experience with your treatment. If a nurse or technician makes you feel uncomfortable, physically or mentally, then get someone else if at all possible. You want to be relaxed for the procedure. There is also a "butterfly" needle which some patients have reported as much more comfortable than the regular needles used for blood donation. Ask questions and use these suggestions, it will make it much easier in the long run. All in all, you will get "used" to the weekly bloodletting and find that usually it is just as simple as donating a unit of blood. And, remember, phlebotomies certainly are preferable to the alternative--organ damage and serious health conditions (which involve many needles), not to mention premature death, that would result from no treatment at all. Discuss your fears with your physician and the phlebotomist so that they can work with you to make this experience as comfortable and pleasant as possible. If your fear of needles and/or blood is extreme, some patients have been able to comply using sedatives and tranquilizers prior to the procedure. Remember, this procedure is identical to a blood donation, a common, everyday medical procedure performed by many community minded citizens around the country on their "lunch break". Most patients do not have any problems or unusual fears concerning this procedure, but if you do have a great fear, it is imperative that the medical team know about it so that you can work out a plan that will allow you to be treated. And, remember, you are not alone in your fear of needles, which is very common. Compliance with the treatment plan is essential for a good outcome. Many patients who have had a fear of needles, have overcome this fear and completed their treatments successfully and gone on to counsel other patients who feel as they used to about the treatment! Remember, if you DON'T get treated, you will have far more needles than you could imagine from the resulting illnesses and complications such as diabetes, liver transplant, etc. The sooner you start treatment, the fewer phlebotomies you will need overall. The prescription should read: "Dx: Hemochromatosis--Phlebotomize patient as long as hct. is greater than 35%" This prescription should be good for one year and renewed annually.

Q: Is the blood I give during my treatment used as donor blood? The blood bank said they were going to discard it? Is there something wrong with my blood? I thought HH wasn't a "blood disease" or infectious?

Q: Is there a special diet I should eat or foods I should avoid?

Q: Is iron overload/hereditary hemochromatosis "curable"?

Q: If hemochromatosis is a genetic disease, should other family members be tested? Which ones and when?

A: ALL blood relatives (not just the immediate family) of the iron-overloaded individual should be strongly warned to be screened immediately with the iron profile of serum iron, TIBC, and serum ferritin) and the new DNA genetic test. All should be monitored annually for the rest of their lives. This includes men, women (pre and post menopausal) and minor children. If the HH patient has children, the spouse should also be tested. Actually, everyone in our society should be tested, but especially family members. Due to the lack of public awareness and physician education about hemochromatosis, most family members are not screened and many diagnoses are missed as a result.

Q: I told my family members that I had hereditary hemochromatosis and what tests to have done, but they won't listen to me; they say that their own doctors tell them "not to worry". I am worried; what can I do?

A: No! Pediatric hemochromatosis is very real and more and more cases are being identified every day. Sandra Thomas, President of the American Hemochromatosis Society, has founded the "Children HHelping Children" Screening & Awareness Project to screen, diagnose, and treat children under the age of 18 years with iron overload/hereditary hemochromatosis. All children should have the DNA test ideally at birth to ascertain their possible risk for HH and also have the TS and serum ferritin tests after the age of two years to see if they are clinically iron overloaded at that current time. If necessary, phlebotomy treatment should be started in the child if he/she is loading too much iron, but you should make sure you are using a doctor who is familiar with pediatric hemochromatosis. Children with iron overload often have cardiac symptoms as well as liver disease. They have high saturations and fairly normal serum ferritin readings. More research is needed to establish standardized protocols for pediatric hemochromatosis, but it is imperative that you know your child's genetic risks for HH to make sure that your child can have a normal life expectancy through preventive measures. Some of these cases may be "juvenile hemochromatosis".  Only an expert in hemochromatosis will be able to truly identify the children at risk and those who have developed the disease during childhood.  Liver biopsies are not recommended for children unless evident liver disease is present.  A non invasive test with a ferritometer can measure the amount of iron in the liver if this measurement is needed.

Q: If I have the double gene mutation (homozygous) for hemochromatosis but am not clinically iron overloaded (have high iron levels on lab results) at this time, can I develop iron overload later, such as in 2, 5, or 10 or more years later?

Q: If I have the single gene mutation (heterozygote) and am a "silent carrier" for hemochromatosis, will I become iron overloaded?

Q: No one in my family has ever been diagnosed with hemochromatosis or had any of the symptoms; how could I possibly have this disease?

Q: I had the DNA test and found out that I have the double gene mutation. My husband, who has always been in good health, was tested and we were shocked to learn that he is a "silent carrier" of the single HH gene. We know now that our four children have inherited various combinations of our HH genes from us; two now have been diagnosed with hemochromatosis and two are also silent carriers. Now all of our young grandchildren are being DNA tested by their pediatricians. We feel very guilty about passing these genes on to our children and grandchildren...do others feel this way, too?

Q: My family and friends have never heard of hereditary hemochromatosis and my doctor admits he knows little about it. Why doesn't anyone know anything about HH if it is so common? I feel all alone.

A: The American Hemochromatosis Society (AHS) is the leading non profit organization for information on genetic testing for iron overload/hereditary hemochromatosis, and information and support for pediatric hereditary hemochromatosis. AHS was founded on March 30, 1998 by Sandra Thomas, a carrier of the HH mutation and whose mother, Josephine Bogie Thomas, was a victim of HH and was diagnosed in 1983 and died from complications of the disease on May 13, 1999.  AHS originally was based in Delray Beach, Florida, and is now based in Lake Mary, near Orlando, Florida. It is a 501(c)3 non-profit organization whose mission is to ban genetic discrimination, promote genetic testing for HH of the American population, and emphasize a focus on pediatric hereditary hemochromatosis and neonatal hemochromatosis (NH). More than 1.5 million Americans who have iron overload/hereditary hemochromatosis and another 32 million Americans who are "silent carriers" of the single mutation, will need to be served with information and support...AHS will be there for them. AHS serves both physicians and patients.

Q: Are there any books about iron overload that AHS offers?

A: You can use the web site.    The web page address is: www.americanhs.org     AHS has it's own discussion group called, "Families HHelping Families". See the web site for more information on how to join this group.  The Internet is teaming with information, abstracts, papers, articles, about hemochromatosis.  What sets AHS apart from these resources is that you can call us directly and talk to us about your specific case and ask us about any questions which you might have.  You can also find us on Facebook.  Stop by and "Like" us!  Also look for us on Twitter @HFEtest

Q: How can I get more information from AHS on iron overload/hemochromatosis by mail?  How can I make a donation to AHS?