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Hemochromatosis: How to Get Tested
"The simple DNA genetic test kit, pictured left, is easy to use, painless, bloodless, and takes only a few minutes to complete.  You simply swab your cheek with a small brush.  It is perfect for infants, children, and adults.  Results are ready in just a few days after testing.  Results are confidential and private.  For people who wish for their results to remain private, and not appear in their medical records, direct home testing is a good option". Sandra Thomas, President, AHS
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Where can I get tested for hereditary hemochromatosis?

Here is an easy way to get direct testing without a prescription and results sent directly to the patient only. Call Healthcheck USA www.healthcheckusa.com toll free at 1-800-929-2044 for a testing lab near you. Blood testing to check your iron storage status, known as a complete iron profile, which includes, serum iron, TIBC and serum ferritin, is available. You can also use the "do it yourself" DNA genetic test kit that you use at home (no blood, no needles, no pain).

If you have a doctor, you may have this testing done by him/her in the office, but remember that the results will then be a part of your medical records, and you may wish to keep that informatio private. Be sure to ask your doctor for these tests by name and obtain and review copies of your test results and keep a home medical file.

Genetic Labs Performing DNA Testing for Hereditary Hemochromatosis

This is the latest technology in medicine which will quickly and accurately determine if you have the HFE (HH) mutation for hereditary hemochromatosis (HH). This test can help confirm the diagnosis of hereditary hemochromatosis in the presence of elevated transferrin saturation percentage and elevated serum ferritin. In some cases, this test can help the doctor to avoid the traditional (and invasive) liver biopsy for the patient when the ferritin is only slightly elevated (early diagnosis) and no other signs of liver distress are evident such as elevated liver enzymes. Another significant use of the DNA test is screening other family members for their genetic risk once one family member has been identified with the mutation. This is particularly useful in children to identify them at an early age so that the pediatrician can monitor the child throughout childhood for iron storage. AHS advocates newborn screening with the genetic test to have the earliest possible awareness of this mutation being present so that the life of the child may be protected through close monitoring by the pediatrician. Sandra Thomas believes that everyone should have the genetic (DNA) test, whether or not they have a family history of HH or symptoms of HH. Only testing can show you for sure if you, or your family, is at risk for HH and if the HH gene mutation, known as the HFE mutation, is present in your family gene pool.

 

Sandra Thomas, President/Founder of the American Hemochromatosis Society, discusses iron overload and hemochromatosis with the "Iron King", William Crosby, MD.   Dr. Crosby was a pioneer in the field of iron overload/hemochromatosis research and was a good friend to the Thomas family during Sandra's mother's battle with hemochromatosis.

 

Warning: The doctors on the Board of Directors of The American Hemochromatosis Society state that transferrin saturation percentage greater than 40% and serum ferritin greater than 150ng/mL could indicate clinical iron overload/iron storage in the body and treatment with phlebotomy (bloodletting) should be considered regardless of DNA test results. This means that patients' treatment should not be based on genetic test results alone whether positive or negative. The DNA test is a powerful tool to help us find people at risk; 85-98% of patients with clinical iron overload have the hemochromatosis mutations, however, the most important point to remember is that excess iron needs to be evaluated and treated. William Crosby, MD, (see photo above) the late well known hemochromatosis physician and researcher, declared that if a patient has demonstrated excess iron then they are in danger of organ damage and premature death. Patients should be aggressively (usual rate is weekly or twice weekly depending on the stage of the disease) treated with phlebotomy (bloodletting identical to blood donation) for excess iron!   Treatment frequency can be adjusted for individual patients with special circumstances (elderly, other medical problems, etc.)  See AHS guidelines

AHS President/Founder, Sandra Thomas, holding a tube of her own blood. 

Sandra is a "silent carrier" (heterozygote) of the cys282 HFE gene mutation for hereditary hemochromatosis (HH).

WARNING: HLA-typing is NOT the same as DNA genetic testing. HLA typing is an outdated form of testing that does not identify the gene mutation for hereditary hemochromatosis. Make sure that you and your doctor are not ordering HLA typing, but rather genetic testing by PCR for the HFE mutation (cys282 and his63) on the short arm of chromosome 6. A few labs also offer testing for the 65C gene mutation, but most labs test only for the cys282 and his63 gene mutations. 

If you have any questions about DNA testing, please email Sandra Thomas at: mail@americanhs.org or call her directly at: 407-829-4488.

Other labs offering DNA testing for the HFE gene mutation:

23andme (www.23andme.com)  $99.00  (gives raw data but not interpretation of data/results) Saliva test.

GeneTrack (www.hemochromatosisdna.com)  Tests adults and children.  $156.00 discounted price.

Lab Corps--requires needle in arm and costs $480.00 out of pocket

In Australia:

DNA testing is available at the Queensland Institute of Medical Research at the Royal Brisbane Hospital. They have a web site at:

http://www.qimr.edu.au

Other Considerations and Thoughts for You:

*If you use a doctor for testing (rather than doing it yourself), do not simply ask your doctor to test you for iron overload/hereditaryhemochromatosis, but rather ask for these blood tests by name: serum iron,TIBC (total iron binding capacity), and serum ferritin (blood taken in the doctor's office from your arm not your finger.) Remember hematocrit (hct )and hemoglobin (hgb) are not tests to confirm HH.  If you want the fastest and easiest way to find out if you have hemochromatosis, simply call HealthCheckUSA.com and order the tests yourself.  You'll have your results in a few days.  And, it is completely private.  You can get DNA test results as well from HealthCheckUSA and GeneTrack.

*Percent of saturation is calculated by dividing the numerical result of the serum iron by the numerical result of the TIBC. A percent of saturationgreater than 40% (>40%) and/or a serum ferritin greater than 150 ng/ml (>150ng/ml) is suggestive of HH and should be further investigated by a qualified physician.

*DNA (genetic) testing by a lab which tests for both HFE mutations (cys282 & his63) can help confirm the diagnosis in the presence of high iron levels or determine genetic risk for HH in patients with normal iron levels who may be at high risk of storing iron in the future. Patients who have normal iron levels but who are positive for the HH mutations should be put in a surveillance program by their doctors.  If you wish to simplify the process, genetically test yourself using a DNA genetic test kit from www.HealthCheckUSA.com  Call them to order the kit on their toll free number: 1-800-929-2044 or GeneTrack.com (www.hemochromatosisdna.com) or their toll free number: 1-877-714-6356.

*Always get copies of your own lab results and medical records and read them yourself. Keep a master set of medical records in a home medical file; never give out your original master set records, make copies instead, to give to doctors you may visit for additional opinions..

*Always consider getting a second opinion or even multiple, medical opinions, especially if you have an advanced case of HH with serious medical complications.  You may have to travel out of town, but it will be worth it. Contact AHS for the names of top experts around the country.

*Avoid eating or handling raw seafood, especially if you have liver disease due to HH (or any cause) cooked seafood is fine; do not take vitamin C supplements (natural sources such as orange juice are fine);and do not take iron supplements or vitamins with iron; do not cook food in cast iron cookware.

*Do not eat a diet void of iron, it is unpleasant, unhealthy, and you will end up weak! (one patient reported eating nothing but water and cottage cheese the first two weeks after her diagnosis she was so fearful of eating anything with iron in it). Remember our diet motto: “All take heed, you may eat the food that you need, but be willing to bleed!”

*Aggressive bloodletting (therapeutic phlebotomy/TP) should be the treatment of choice with 1 unit of blood removed usually once or twice a week, until serum ferritin is less than 20ng/ml (<20) and then maintain it between 20 and 50 for life, then performing 3 to 4 treatments per year for the lifetime of the patient. Treatments should be individualized to each patient, taking into consideration the age, size, weight, and stage of HH of the patient, so that frequency of treatments and amount of blood removed can be adjusted accordingly.

*Liver biopsy may be necessary to determine extent of advanced liver disease if liver function tests (LFT’s) are significantly elevated and there are signs of liver distress. Discuss the need for this procedure carefully with your physician. Those with early, asymptomatic HH with normal LFT’s, probably will be able to forego this invasive, and potentially risky procedure. The earlier the diagnosis, the less chance you’ll need a liver biopsy, so early screening is important. If you do have a liver biopsy, request that it be done with “guidance” such as ultrasound or CT and don’t take aspirin type medications a week prior to the procedure. Liver biopsy is used to diagnose, not screen for, primary liver cancer (PLC) . Patients at high risk for PLC should be screened every three to six months with alpha fetoprotein and PIVKA-II blood tests for the rest of their lives.  If you refuse to have a liver biopsy, you can still be treated.  If your doctor refuses to treat you without a liver biopsy being done first, find another specialist who will. 

*Warn all family members to be tested and keep a computer file of family members’ results. Don’t forget the elderly and the kids when screening family members. Remember, men, women, and children can get iron overload/HH.

*Download a copy of the Annals of Internal Medicine, December 1998 supplement on the “Diagnosis and Management of Hereditary Hemochromatosis” at http://www.acponline.org/journals/annals/01dec98/ mgmthemo.htm and show it to your doctor.

*Take an active part in your health care. Ask questions, take notes, research information, keep records, and educate yourself. It’s your life!

Hemochromatosis: Treatment

Have you ever donated blood? 

If you have, then you know exactly

what the treatment is for hemochromatosis! 

Josephine Bogie Thomas donates blood to control her advanced stage hereditary hemochromatosis. 

It took 85 treatments to get her "de-ironed" with a total 106 treatments in her lifetime. 

These phlebotomy treatments done at a local blood bank added another 16 years to her life!

 

Treatment, also known as therapeutic phebotomy (TP), or "bloodletting" can take place in several locations--a doctor's office, a hospital blood bank,  or a community blood bank.  Insurance often covers doctor's office and hospital treatments, but not blood banks.  If you are paying out of pocket, blood banks would be your best choice since some blood banks will remove the blood for free and use the blood as donor blood.  These blood banks are approved by the FDA and have applied for and received a "variance" to use hereditary hemochromatosis (HH) blood as donor blood. 

Regardless of where you are treated, find a nurse/tech whom you like and who takes the blood in a comfortable fashion.  "Bloodletting" as it is sometimes called, is an "art" and you want to find someone who has the "talent" to do it well.  The truth is, some people are better at taking blood than others, so when you find that someone "special", you need to find out his/her name and schedule and make sure that your treatment coincide with their hours.  Be sure to call the blood bank first, for instance, to make sure that they are there for their regular shift and wait until they are available.  This is a handy tip that will make your treatment experience a positive one.

Be sure to eat well before and after your treatment, and also drink plenty of fluids before and after treatment.  Until you are used to the procedure, take someone with you to drive and give you support, so that you are more relaxed about your experience.  If it is your first time, be sure to let the staff know any concerns or fears that you might have. This will help them to be more sensitive to your needs.

If you are afraid of needles, you are not alone!  Many patients feel this way, but with experience and a supportive staff, they overcome this fear even in the most extreme cases and proceed on with their treatment.  If your anxiety is great, let your doctor know.  Don't suffer in silence.  Your doctor can prescribe a mild sedative that can "take the edge off" of your anxiety and help you to help yourself through your treatment schedule. 

Most patients want to know how many treatments they will need.  That number will depend on what stage of the disease the patient has.  If it is an early stage diagnosis, they may only need a few treatments before being "de-ironed".  Other patients with more advanced cases, for instance, a ferritin level greater than 1,000, may need dozens of treatments before reducing the iron storage burden to the level it needs to be (a ferritin of 20 is the usual goal, then keep the ferritin between 20 and 50 for the rest of the patient's life). 

The usual frequency of the treatments are once a week and in advanced cases, sometimes twice a week.  Based on various factors, age, health, and weight/size, some patients may be treated less frequently, for instance, every other week, or once a month.  In general, though, if the patient has a high ferritin (500 or greater) and is basically good health otherwise, a minimum of once a week is advised.

The weekly treatments will continue until the ferritin reaches 20.  At this point, the patient is "de-ironed".  The patient can now reduce the treatments to about three to four times a year.  This schedule will vary from patient to patient.   Some patients need to be treated once a month indefinitely, whereas other patients only need one or two treatments a year.  Some of this frequency will depend on the patient's diet and how strict they are with themselves concerning iron intake through their diet.

The treatment is usually simple and easy.  It should not be a source of great anxiety or discomfort.  If it is, then it is time to talk with the doctor, change doctors, change blood banks, or get counseling concerning what is bothering the patient.  Treatment is key to saving the patient's life in advanced cases, and to preventing organ damage and premature death in earlier stage cases.

Many patients report feeling so much better after each treatment.  Some are treated during their lunch break.  It is normal to feel tired a few days after the treatment, but remember, each time you give blood, you are reducing the iron stores in your body!  Don't give up!  Each treatment is bringing you closer to saving your own life!

 

Sandra Thomas, President, AHS

JAMA (Journal of the American Medical Society), March 19, 2003--Vol. 289, No. 11

 

      

Guidelines

1. SCREENING

A. Population
All health care providers including hospitals, doctors, clinics, insurance companies and managed care facilities should screen everyone over the age of 18 years old, male and female, with a iron profile (see section 1.b ) every 1 to 2 years to measure their current iron storage status. Children ages 2-18 years should be monitored every 2-3 years with an iron profile if they have a diagnosed blood relative with hereditary hemochromatosis/iron overload. It should be further noted that “no physician should prescribe iron supplements or vitamins containing iron or vitamin C supplements without first determining the iron storage status of the patient, as otherwise, the physician may be put at risk for medical negligence.” (Victor Herbert, MD JD)

B. Proper tests

  • Serum Iron
  • TIBC (Total Iron Binding Capacity)
  • % of Saturation
  • Serum Ferritin

The patient should be told to abstain from iron supplements 24 hours prior to testing which ideally should be done in the morning while fasting.

2. DIAGNOSIS

If you find a percent of saturation greater than 40% and/or serum ferritin greater than 150 ng/ml then your patient may have hereditary hemochromatosis/iron overload and the tests should be repeated as soon as possible.

The following tests should be also be performed:

A. Primary Test

In all cases, DNA for the common hemochromatosis mutation (HFE) known as the Cys282Y and the His63G on chromasome 6 should be done for patients with a percent of saturation > 40% and/or serum ferritin >150 ng/ml.

This test can be performed using a tissue sample or blood sample. It can be ordered directly from the laboratory by the patient who uses it at home and mails it back to the lab or performed in the doctor’s office. There is a 24 hour turnaround on the results which will be faxed directly to the doctor. Once a case of HH is diagnosed in a family, “all blood relatives should be genotypically and phenotypically tested,” Victor Herbert, MD JD.

The American Hemochromatosis Society recommends:

23andme.com  or  www.hemochromatosisdna.com

B. Liver Function Tests (LFT)

All patients suspected of having HH should have LFT’s performed including ALT, AST, SGOT, GGPT. If these tests are significantly elevated, a liver biopsy may be considered to determine degree of damage to the liver. Patients with normal LFT’s may proceed to treatment without a liver biopsy which should no longer be used solely to diagnose clinical iron overload.

LIVER BIOPSY

A liver biopsy should be considered if any of the following factors exist:

  • Serum ferritin > 1000 ng/ml and the patient is >30 years old
  • Any liver function test (LFT) that is significantly elevated
  • Any scans including CT, MRI, or ultra sound that show an enlarged liver or any other abnormalities
A liver biopsy should be stained with prussian blue for iron and a hepatic iron index (HII) should be calculated.

Therefore, treatment should begin immediately and not wait until after all liver biopsy results are complete. If a patient refuses the liver biopsy, or is unable to have the liver biopsy performed, treatment should still proceed promptly.

A case example when a liver biopsy would not be necessary:

A 25 year old woman with a percent of saturation of 85% and a ferritin of 235, normal liver enzymes and no symptoms. In this case, either the DNA test or quantitative phlebotomy (see section 3.A. ) can be used to confirm the diagnosis.

Note: If the liver biopsy shows any sign of fibrosis or cirrhosis, the patient should be monitored frequently for the rest of his/her life for hepatocellular carcinoma with the following blood tests and scans:

    1. Biphasic Helical CAT Scan (every 6 months)
    2. Alphafeta Protein (every 6 months)
    3. PIVKA-II blood test (every 6 months) This test can currently be ordered through Esoterix at 303-399-3336.

C. Glucose

Since diabetes is a common symptom of advanced HH, patients should have a base line glucose check to rule out the advent of diabetes.

D. Hepatitis Screening

All hereditary Hemochromatosis patients should be screened for hepatitis as well as wall hepatitis patients being screened for HH. If the HH patient is found to also have Hepatitis C, phlebotomy treatment should be initiated and iron stores brought to normal before initiating interferon treatments for hepatitis C.

E. EKG

A baseline EKG should be done to rule out heart damage by iron overload.

3. TREATMENT

Once the diagnosis of hereditary Hemochromatosis/iron overload has been made by any of the aforementioned tests, the patient should be aggressively phlebotomized by prescription using the following criteria until serum ferritin (storage iron) is brought to 20 ng/ml or less. The prescription should read: “Phlebotomize this patient one to two times per week as long as hematocrit remains >35% and until serum ferritin is 20. Diagnosis: Hemochromatosis"

Once the serum ferritin reaches 20 ng/ml, the patient should go on a maintenance phlebotomy program, usually three to four times annually, for the rest of his/her life.  The patient should keep the ferritin between 20 and 50 ng/ml for life.  Clinicians who do not have experience with hemochromatosis diagnosis/treatment should consult a medical expert. AHS can provide such experts for consultation.

Patients with HH/iron overload should be warned not to:

  • take iron supplements
  • take vitamin C supplements
  • consume or touch raw seafood/shellfish
  • drink alcohol or if no damage at diagnosis, to drink moderately

    A. QUANTITATIVE PHLEBOTOMY

    Another method of diagnosing clinical iron overload is to give the patient a trial period of weekly phlebotomies, usually running for six weeks using the prescription shown above. If the patient’s hematocrit continues to rebound week after week remaining >35%, the diagnosis of clinical iron overload has been made.

4. MAINTENANCE

Once an iron overload/hemochromatosis patient has been de-ironed they should have a normal life span as long as no other complications (cirrhosis of the liver, cardiac problems, diabetes) were present at time of diagnosis. The patient should keep serum ferritin below 20ng/ml for the rest of his/her life. The accepted therapeutic phlebotomy (TP) maintenance regimen is 3 to 4 times per year which may vary from patient to patient. Ferritin levels should be checked on an annual basis.


PURPOSE AND MISSION STATEMENT OF THE AHS GUIDELINES

The purpose of our current guidelines is to further educate the medical community and general public about the most common genetic disease known to medical science — HEREDITARY

HEMOCHROMATOSIS. HH is contributing to a significant number of cases of heart disease, liver disease, cancer, arthritis, diabetes, impotence, chronic fatigue, and premature and avoidable deaths. HH/Iron overload should be considered first as a possible precursor to these diseases. Prevalence of one in eight as carriers and one in 100-200 as double gene cases illustrates the imminent need for more public and physician education about iron overload/hemochromatosis. Physicians who are members of the “American Hemochromatosis Society Expert Physician Program” follow these guidelines.

American Hemochromatosis Society, a 501 (c)(3) non-profit organization
Member of the Alliance of Genetic Support Groups
Member of the International Association of Hemochromatosis Societies

"Prevention thru genetic testing"
Web Page: www.americanhs.org

Office email: mail@americanhs.org

P.O. Box 950871
Lake Mary, FL 32795-0871
Tel: 407-829-4488

Fax: 407-333-1284

AHS Hemochromatosis Hotline 1-888-655-IRON (4766)