Have you ever donated blood?
If you have, then you know exactly
what the treatment is for hemochromatosis!
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 in 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|
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.
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:
Gene Track for genetic testing at: 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.
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:
- Biphasic Helical CAT Scan (every 6 months)
- Alphafeta Protein (every 6 months)
- PIVKA-II blood test (every 6 months) This test can currently be ordered through Esoterix at 303-399-3336.
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. EKGA baseline EKG should be done to rule out heart damage by iron overload.
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 moderatelyA. QUANTITATIVE PHLEBOTOMYAnother 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.
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
American Hemochromatosis Society