FAQ's ABOUT HEMOCHROMATOSIS/IRON OVERLOAD

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?

A: Hemochromatosis (pronounced: He-mo-chro-ma-toe-sis) is a genetic condition of abnormal iron metabolism that permits absorption of too much iron from an ordinary diet. Hereditary hemochromatosis is an autosomal recessive disorder. It is NOT a blood disease. It is also known as iron overload or iron storage disease. It is possible for someone who has never had an iron pill in his/her life to have iron overload.

Q: Can iron overload be acquired?

A: Yes, iron overload can be acquired. The genetic form is known as primary hemochromatosis, hereditary hemochromatosis (HH) or (HHC), or genetic hemochromatosis (GH) and idiopathic hemochromatosis (from an unknown origin), a term which is rarely used anymore. The acquired form (through massive doses of iron pills or blood transfusions) is known as secondary hemochromatosis, acquired hemochromatosis, or transfusional iron overload.

Q: How common is iron overload/hemochromatosis?

A: Frequency (incidence in the general population) of the abnormal gene is: 1 in 100-200 people has hemochromatosis (double gene mutation known as a homozygote) and 1 in 8-10 people is a carrier of hemochromatosis (single gene mutation known as a heterozygote or "het" for short). That's approximately 32 million Americans who are carriers and 1.5 million Americans have the double gene which can lead to full blown hemochromatosis. Recent studies in Ireland, show a frequency of 1 in 4 as carriers of the single mutation and 1 in 64 as double gene mutation. Because of this high frequency, routine screening for hereditary hemochromatosis is medically indicated.

Q: Who is affected by iron overload/hemochromatosis?

A: Most affected people DO NOT KNOW they are accumulating dangerous stores of iron. Tragically underdiagnosed, no race, age, or gender is immune. (Premenopausal women do have iron overload as well as young children) The American Hemochromatosis Society (AHS) has made an official position statement and issued guidelines for diagnosis, treatment, and management of iron overload/hereditary hemochromatosis, including recommendations that all Americans age 2 years and older be routinely and universally screened for iron overload as well as genetic screening. All ethnic groups can be affected, but those with an Irish/Scottish/Celtic/British heritage have an even higher prevalence of the HH mutation. Hispanics and Afro Americans also have iron overload.

 

Q: How serious is 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.

 

Q: Is there anything that can be done to treat or prevent iron overload?

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".

 

Q: What are the symptoms of iron overload, hemochromatosis?

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:
  • chronic fatigue (the most common complaint by patients);
  • cirrhosis/cancer of the liver (with or without a history of alcohol use);
  • arthritis/joint pain;
  • impotence/sterility/infertility; early menopause/irregular menses;
  • hair loss; hair thinning
  • diabetes (bronze diabetes, a darkening, graying of the skin not caused by sun exposure);
  • cancer (cancer thrives on iron); (especially primary liver cancer)
  • abdominal pain/swelling;
  • weight loss;
  • frequent colds/flu/infections, compromised immune system;
  • headaches;
  • hypothyroidism; (low thyroid)
  • heart irregularities/heart failure/heart attack (especially in younger men);
  • cirrhosis of the liver (with or without a history of alcohol use);
  • hepatoma/liver cancer (the leading cause of death in HH);
  • premature death.
Anyone with any combination of these symptoms, or a family history of these symptoms, should be tested for HH immediately. But remember, two important facts: 1.) There can be numerous generations of "silent carriers" of the mutation who never become ill and live to old age thereby giving a "false security" that HH doesn't "run in the family" 2.) Some patients do not have symptoms until they are end stage and their lives cannot be saved. Early detection should be achieved through: 1.) Knowledge of genetic risk through DNA Testing 2.) Annual screening with serum iron, TIBC, and serum ferritin to assure that iron storage is not taking place.

 

Q: I went to the blood bank and they told me I was anemic; how could I have iron overload at the same time?

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.

 

Q: How can I know if I have iron overload/hemochromatosis? What tests should be performed? I hear that there is a DNA genetic test kit for hemochromatosis, is that true?

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. 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 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, but it is not included in most labs' testing protocols.  Several labs also test for both 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. 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 HealthCheckUSA (www.healthcheckusa.com) or call on their toll free number: 1-800-929-2044, to order the HFE test. 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 and GeneTrack (www.hemochromatosisdna.com) which offers a discounted price of $156.00.  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. 

 

Q: I had the blood tests for iron overload and my doctor says I am "fine"; do I need to worry about it now?

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?

A: LOW iron means investigate the cause: cancer? internal bleeding? chronic infection? It is dangerous to take iron without knowing the reason for the iron deficiency. Your doctor should thoroughly investigate the cause of your low iron before prescribing iron pills.  The late Victor Herbert, MD JD, (see photo below) Professor of Medicine at Mt. Sinai School of Medicine in New York City stated that no one should take iron supplements without first assessing their iron storage status. Try to find out why you have the iron deficiency in the first place.

 

Sandra Thomas, President/Founder of the American Hemochromatosis Society, joins Dr. Victor Herbert at the AHS exhibit booth at the American Society of Hematology (ASH) convention. 

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?

A: Yes. Even if your first test was negative, ideally, you should be monitored annually by your physician. Also, by having the DNA test, you can discover if you have the single or double gene for hemochromatosis and determine your risk factor of developing full blown hemochromatosis or passing a mutation to offspring. A very small percentage (about 12% to 15%) of patients who are clinically iron overloaded (have high TS and serum ferritin levels) may have a negative result on the genetic test. Scientists believe that these persons have still another HH mutation (which has yet to be discovered and a test for it developed) which is causing this iron storage. For this reason, it is always wise to test using the transferrin saturation and serum ferritin annually to be on the safe side.

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

A: A percent of saturation of more than 40% (in African Americans) and 45-50% (in Caucasians) and/or a serum ferritin of more than 150 are considered suspicious for iron overload/hemochromatosis. It is important to note that in some patients, the percent of saturation can be quite high while the ferritin rather low (this is often the case in children or young adults in their 20's) which might be an early stage of HH, or conversely, with normal percent of saturation and a high serum ferritin (which may be an infection or inflammation and not iron overload).. Genetic testing can, in most cases, confirm the diagnosis so that treatment can begin. Ask your doctor about liver function tests, if these are also elevated, that is another possible sign of HH.

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

A: Confirmation of a diagnosis is based on a combination of several factors; these will vary from doctor to doctor on which ones are used: a.) Elevation of iron tests such as transferrin saturation and serum ferritin b.) Elevation of liver enzymes (abnormal liver function tests) c.) Symptoms (diabetes/heart disease/arthritis/impotence/infertility/bronzed skin, liver disease) d.) Liver biopsy showing hepatic iron index (HII) and such liver diseases as cirrhosis/cancer e.) DNA genetic test (results are available between 1 to 14 days depending on the lab used) f.) CT/MRI/Ultrasound of the liver showing deposition of iron in the liver or hepatoma(s) (liver tumors). g.) Quantitative phlebotomy (a trial series of six weekly phelobotomies to confirm diagnosis; if the hematocrit remains 35% or greater immediately prior to each phlebotomy. Six weeks of weekly bloodletting is another way to confirm iron overload, hemochromatosis) h.) Alpha Fetoprotein bloodwork ruling out liver cancer due to HH. i.) EKG to rule out heart damage from HH. j.) Family history of iron overload, especially parents/siblings, who should also be screened with transferrin saturation and serum iron and genetic tests for comparison. If no family history of diagnosed hemochromatosis, check family medical history for symptoms of undiagnosed HH, such as heart disease, early heart attacks especially in men (in their 30's), liver cirrhosis/cancer, diabetes, arthritis, impotence, infertility, chronic fatigue syndrome, etc.

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

A: A CT or MRI of the abdomen will only tell you that the liver is very "dense" due to iron content. They do not give you any details such as if there is cirrhosis or not or if there is scar tissue, etc. The density can be measured and it has a very good correlation with the amount of iron in the liver. Both CT and MRI are very good to detect hepatomas (cancerous tumors of the liver) very early and very well. They also help to tell us if they can be surgically removed or not. Ultrasound is another technique that can be used as well and is less expensive than the CT or MRI and uses no radiation like the CT. In fact, an ultrasound with an ACUSON would be advisable in order to maximize any chances of finding an early lesion that might be confined to one lobe and therefore potentially resectable (operable). If you have an "early" stage diagnosis (ferritin less than 500), you probably would not need to have a CT or MRI of the liver, unless liver disease is indicated in some other way.

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. 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 either 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 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: If you start phlebotomies before cirrhosis of the liver starts, then the chances of a liver cancer (hepatoma) are not any higher than in the rest of the population. You can detect the beginning of liver cancer by checking the blood periodically with a test called alpha-fetoprotein. Annual or bi-annual ultrasounds of the liver are also advisable in patients with cirrhosis or suspected cirrhosis of the liver. Persons with HH should have the alpha fetoprotein test done two or three times a year. Even in persons without confirmed cirrhosis, the alpha fetoprotein test should be performed just in case. It is an extra security measure. If a hepatoma is found early, it can be removed with a partial liver resection.  In some cases, there can be a cure.  There are many new treatments for liver cancer /hepatacellular carcinoma.

 

Q: Is there a treatment for iron overload?

 

A: Yes. Hemochromatosis is considered the "Good News Disease" because you can do something about it! There is a treatment--a very easy, simple and effective one! The treatment of choice is bloodletting, medically known as "phlebotomy" (fla-bot-o-me). It is identical to a blood donation at a blood bank. When iron overload is discovered, it is imperative to unload the excess iron as FAST AS SAFELY POSSIBLE by being bled weekly or twice weekly. The patient should try to reduce the serum ferritin to less than 20 within 18 months of diagnosis. The duration of weekly treatments (known as the aggressive treatment phase) will be determined by the amount of iron stored in the body based on blood test results and/or liver biopsy. If the iron overloaded patient is also severely anemic, an iron chelator, Desferal, must be used instead of bleeding. A new oral chelator has been developed called,
ExJade, made by Novartis. You can learn more about it at:
http://www.exjade.com/index.jsp

 

Q: If there is a drug I can take for iron overload, wouldn't it be better to use that, instead of giving blood

all of the time?

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).

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

A: Treatment, known as phlebotomy or bloodletting, which is identical to a blood donation at a blood bank, ranges in cost (in U.S. dollars) per treatment as follows: a.) Blood bank (community blood bank)=$30.00 to $200.00 per treatment b.) Doctor's office=$200.00 to $400.00 per treatment c.) Hospital/outpatient=$400.00 to $1400.00 per treatment You will have to check with your individual insurance company to determine coverage. Although the blood banks are the least expensive, insurance usually does not cover phlebotomy cost at a blood bank (Medicare does not cover blood bank treatments, yet will cover treatment by a doctor), however, it will cover phlebotomy treatment at the much high rates in the doctor's office or hospital. It is odd that insurance would not cover the least expensive procedure and hopefully this will change in the future.  If you can find a blood bank that is sanctioned by the FDA (go to www.fda.org) that uses HH blood as donor blood, you can get treated for "free".  The new oral chelator, ExJade, is made by Novartis.  Patients interested in more information about ExJade should contact the company and ask about pricing and possible assistance with the cost of the medication.

Q: How often should I be treated?

A: You should have a phlebotomy/bloodletting, at least once a week, as long as your hematocrit remains at 35% or greater before each treatment. Some patients are treated twice a week or even three times a week when severely iron overloaded.

           Some patients who have other medical problems, or are elderly, may have their             

           treatment schedules adjusted to every ten to 14 days initially during the "aggressive"

           phase of treatment.  When the iron stores are depleted, and the ferritin has reached 20,

           then the treatments can be done much less often, 1 to 4 times a year. 

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

A: Weekly treatments (the "aggressive treatment phase") should continue as long as your hematocrit remains 35% or greater before each treatment and until your serum ferritin is below 20. At that point, you begin maintenance treatments, about three or four times a year, which should be performed for the rest of your life. The serum ferritin level should be maintained below 20 for the rest of your life. Some patients have reported that when they completed their aggressive phase and were iron depleted that they then stopped and weren't bled again for many years. This is incorrect. You must continue to be bled three or four times a year (the number of times may vary from patient to patient) or the iron stores will build up again placing your health in danger.
Q: How many phlebotomies will I need to have a normal iron level again?
 

A: The number of phlebotomies varies from patient to patient depending on how high the initial iron overload is. A patient with early diagnosis may only have to give a dozen phlebotomies before going on a maintenance program for life; other patients, in advanced stages of hemochromatosis, may require 80 to 100 phlebotomies or more to "de-iron" themselves ("de-iron" is a term used to denote a patient who has reached a serum ferritin of 20 or a target goal set by his/her physician which is usually a serum ferritin below 150). You can expect each phlebotomy to reduce the ferritin approximately 30 points each time. So, a ferritin of 3000 might require 100 phlebotomies to reach the target goal. A ferritin of 300 might only require 10 phlebotomies to reach the target goal.

 

Q: My ferritin was 3,000 at diagnosis and was dropping steadily approximately 30 points per treatment, phlebotomy, but suddenly dropped 500 points. My doctor and I don't understand how this could have happened?

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 reactions or side effects of phlebotomies differ from patient to patient. For patients who have a history of blood donation in their community, treatment is no different, since it is identical to a blood donation at your local blood bank. The only difference is that it is done more often (weekly) than voluntary blood donation (usually every 56 days) and therefore patients often report being fatigued and weak after numerous treatments, however, they are necessary to prevent damage to the patient or prevent additional damage to the patient, and to prevent death. If you are in "aggressive treatment" (at least weekly) you "may" experience varying degrees of tiredness and fatigue. For advanced patients undergoing vigorous weekly treatments for extended periods of time, some have reported that they have had to stop working or get assistance from family or friends with household chores and child care. Family members and friends should be informed that treatment is necessary to save the patient's life and understand that physical and emotional support are essential for the patient's successful completion of initial treatment. Other patients actually report feeling "invigorated" after each treatment with a few days of tiredness after each treatment and then back to normal. Be sure to discuss any side effects that you experience with your physician.

 

Q: Is hemochromatosis reversible through phlebotomy or must a patient undergo phlebotomy on a regular basis for the rest of his life? Does phlebotomy eventually ease the symptoms so that this treatment may stop?

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.

 

Q: I have a fear of needles; isn't there any other way to be treated?

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?

A: Some blood banks do use the hemochromatosis blood as donor blood, but most blood banks in the U.S. do not. There is nothing wrong with hemochromatosis blood; HH is not a blood disease, nor is it infectious.  HH blood can be used as donor blood as long as it meets the standards and tests of the blood bank (i.e. free from HIV, hepatitis, etc.). HH blood is not contagious or infectious in any way. The FDA was petitioned by the late Victor Herbert, MD JD, of Mt. Sinai School of Medicine in New York City, NY, to use hemochromatosis blood as donor blood. Although the FDA did not immediately change their policy, more petitions followed. In the past, the blood bank was using what many consider to be an "outdated" policy which says that any patient who gives blood for a "medical reason" is a "motivated donor" and they feel that motivated donors' blood is not as "safe" as other blood donations because donors might donate (in order to save their own lives due to the medical condition) when they personally know that they shouldn't (i.e. they have HIV, hepatitis, etc.). The blood bank feels that people who are "motivated donors" will not tell them about HH so that they can donate blood for free to avoid the cost of phlebotomies. Leading doctors around the country have urged the AABB and the Red Cross to change their policies concerning HH patients, who are shown to be just as safe as the general public when donating blood. In 1999, the FDA approved the use of hemochromatosis blood as donor blood. Any blood bank can apply for a "variance" to use HH blood as donor blood.  The FDA did not issue a mandate that all blood banks had to use HH blood as donor blood, but did give them the option to do so if they wanted to offer that option to the public.  More than fifty blood banks around the USA accept and use HH blood as donor blood.  If you want your local blood bank to use HH blood as donor blood, you can contact the blood bank director and discuss how their policy might be changed in the future.  You can find a list of these blood banks on the AHS web site or the FDA web site (www.fda.org) . Of course, there are many patients who have hemochromatosis and know it and who donate blood without telling the blood bank.  There are also many patients who have hemochromatosis and don't know it and are donating blood to the blood bank.  Most blood banks do not test donors for iron overload or hemochromatosis.  The American Hemochromatosis Society feels that HH patients are very "special" since they are "super donors" and should be welcomed by all blood banks.

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

A: Basically, iron in the diet is not going to make much difference in relation to your treatment, however, it is wise to check the labels of processed foods for their iron content. For instance, certain breakfast cereals contain 100% RDA of iron as do other products. Avoid alcohol and vitamin C which enhance iron absorption, cooking in cast iron cookware, and never take iron pills or supplements containing iron. Hemochromatosis patients should not eat raw seafood or shellfish (cooked is fine) due to a bacteria (vibrio vulnificus) which can kill the patient within hours of ingestion (due to a compromised liver which many HH patients have) unless emergency treatment of antibiotics (tetracycline) is administered. (Note: this can also happen to fishmen who handle and clean fish). Drink tea and coffee with your meals which will help block the iron in the foods you do eat. For more details on diet, you can purchase "The Hemochromatosis Cookbook" by Cheryl Garrison available through any major book store, amazon.com, or the Iron Disorders Institute (IDI).

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

A: Iron Overload is not curable if it is genetic hemochromatosis, hereditary hemochromatosis (HH).  The patient will need to be monitored and treated for the rest of his/her life. However, iron overload is curable in the case of acquired hemochromatosis such as massive doses of iron pills, etc. Once the patient is "de-ironed", he/she will not need to be treated anymore.  For HH, we hope that research in the future will find a cure for this condition, until then, treatment and early diagnosis, offer the next best thing to a cure.  In fact, HH can be prevented with early genetic screening and detection of the high risk gene mutations.  In such cases, patients can be genetically screened, identified, and monitored, so that they will never have high iron at any time in their lives, thusly preventing organ damage and premature death. Of course, someday, we hope that there will be a complete cure for hereditary hemochromatosis. 

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: Family compliance with screening is often very challenging to the first member of the family to be tested. Try to find several members who are willing to have the DNA test at least. If those tests are confirmed, often other members will take new "interest" and comply when they see the DNA test results in black and white. Another possible tactic is to have your doctor contact your family members' doctors, either by telephone and/or letter and urge their doctors to screen them with the proper blood tests and DNA tests. Another possible tactic is to obtain DNA test kits from a lab and mail them to family members or bring the kits to a family reunion, wedding, holiday gathering, and distribute them at that time and explain the importance of the test. Finally, if the family members have children, urge them to have the DNA testing if not for themselves, to do it for the sake of their children. People often will be tested when their children's and grandchildren's health is at stake.   Home testing is also another way to encourage family members to be tested.  By genetically testing family members at home, and avoiding the medical setting of the doctor's office, many family members will be tested.  We recommend HealthCheckUSA (www.healthcheckusa.com) for iron tests and genetic testing.  It is fast, simple, and painless.  A DNA test kit can be mailed directly to your home and is suitable for adults, children, and infants.  There are other labs which offer DNA testing as well.

 

Q: My pediatrician says I don't need to worry about my children between the ages of 2 years and 18 years old having iron overload. He says it's an "adult onset" disease; is this true?

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?

A: Yes, patients with the double gene may develop iron overload at some later time in their lives, therefore, they should be annually monitored by their physician for transferrin saturation and serum ferritin. It is important to note that anyone can develop clinical iron overload, whether they have one, two, or no mutations for HH.

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

A: Most carriers do not become ill (have symptoms or elevated iron levels) during their lifetime, however, they should avoid the same things that the double gene person does. Carriers are at higher risk than non-carriers for loading excess iron and can become iron overloaded so they should be annually monitored by their physicians. Carriers of the single mutation, known as "silent carriers" should also refrain from heavy alcohol consumption and/or massive vitamin C supplementation (you may drink orange juice but do not take mega doses of vitamin C pills), and vitamins containing iron. Single gene carriers are at risk of loading high iron and should annually monitor their iron levels with serum iron, TIBC, and serum ferritin tests.

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?

A: Many patients who have full blown hemochromatosis (the double gene mutation/homozygote) have family members who have it also but do not know it or who have died from hemochromatosis but it was never diagnosed as iron overload. Also, it is possible that all of the family members in the family (living or deceased) have also been asymptomatic single gene mutation "silent carriers", lived to old age and no one had the double gene until you, the double mutation patient, were born and your diagnosis of the double gene mutation was discovered. Therefore, those people who say they are the "only" member of the family are incorrect. There are definitely carriers in the family, all double gene patients' mothers and fathers MUST have been at least single gene/heterozygote carriers, and either or both parents could be double gene/homozygotes as well. Many patients ask if they got HH from their mother's or father's side of the family. The answer is that they got it from BOTH sides of the family; HH is an autosomal recessive mutation, therefore, you must inherit one mutated gene from your mother and one from your father, for you to have the double mutation. Many families are startled to learn after an initial diagnosis in that family, that many other family members also have HH! If both parents are double gene, then all of their children will also have the double gene.

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?

A: As we proceed into an era of genetic testing, it is important to remember that NO ONE is free of genetic defects. In fact, we can estimate at this time that everyone has at least three or four genetic defects which may or may not manifest during our lifetimes. As genetic testing becomes more "mainstream" more and more people, like you, will learn what their genetic status is for various genetic diseases. When you consider that people for many generations have died of diabetes, cancer, etc., we can assume that many of these cases were actually due to a gene carried in the family or a "genetic predisposition" for a particular disease that has been passed from generation to generation. Genetic testing is no longer in the realm of "science fiction" and is quickly becoming a powerful tool for doctors to monitor patients and provide therapies which may delay, or even prevent, as in the case of HH, lethal symptoms of a disease. The good news is that hereditary hemochromatosis is a genetic disease whose symptoms, organ damage, and premature death can be completely prevented! Therefore screening and early diagnosis are the keys to full life expectancy! You have nothing about which to feel guilt; you are getting your family members screened; and, if appropriate, into treatment. By becoming educated about hereditary hemochromatosis, you are saving lives--now and for generations to come!

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: Although it is the most common genetic disease in the U.S.A., because there is no routine screening for HH at this time, most cases go undiagnosed. HH is all around you--your families and your friends--they just don't know it. You can help increase awareness in your family, in your community and save lives yourself. You can encourage your doctor to attend read the AHS web page and to attend HH symposiums and CME seminars held around the country. You are not alone; there are thousands of HH patients all over the country who feel as you do. If you have a computer, you can link up with other HH patients via the Internet or the online discussion group, "Families HHelping Families" on the AHS web site..

 


Q: What is the American Hemochromatosis Society (AHS) and what is its mission?

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: Yes! A list of books on HH by various authors appears on the AHS web page and AHS president, Sandra Thomas, is currently writing a book about hereditary hemochromatosis. An educational slide presentation and video are in production.  AHS also has free educational materials which can be mailed to patients and their families.  Please send a self addressed business envelope with two stamps.  However, you will find far more information on the AHS website and the Internet than could be sent to you by mail.  Also, remember that AHS has a Facebook page where you can interact with other patients with HH.

 

Q: How can I get more information from the American Hemochromatosis Society (AHS)

on iron overload/hemochromatosis by email and the Internet?

A: You can email Sandra Thomas, President, American Hemochromatosis Society, at: mail@americanhs.org    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!
 

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

A: AHS will be pleased to send you information by mail, but please remember that you can obtain so much more information by going to our web site and exploring the Internet than received a few pages of information by the US Postal Service.  For free information by mail write to the AHS directly (Please, enclose a self-addressed envelope with two stamps):

American Hemochromatosis Society, Inc. (AHS) (TM)
Sandra Thomas, President/Founder
P.O. Box 950871

Lake Mary, Florida 32795-0871

Office Telephone: 407-829-4488    Office Fax: 407-333-1284

 


If you would like to make a memorial donation or a donation in someone's honor, please indicate that information with your donation.  If making a memorial donation, please include the address of the next of kin so that we may let them know of your thoughtful memorial donation.  AHS is a 501c3 non profit organization and all donations are tax deductible and gratefully received.  Please make your check payable to: "AHS" or "American Hemochromatosis Society".