Q: What is hemochromatosis and what can I do about it?-Angelica T., Sioux Falls, SD
A: Hemochromatosis is a condition in which iron can accumulate and create damage and inflammation in the body. This excess iron can be very corrosive to the internal organs, and if left untreated, can hasten organ degradation and even lead to death.
The main marker for hemochromatosis is high serum ferritin levels. A normal ferritin level is 50-100 ng/mL of serum. Below 10 is suggestive of anemia, and levels above 200 ng/mL in men and 150 ng/ml in women warrant further evaluation for hemochromatosis. The normal iron content of a human body is about 3-4 grams, which is held mostly in the red blood cells. Iron helps "magnetize" oxygen onto the red blood cells. We also store a small amount on a molecule called ferritin that can hold up to 4,500 molecules of iron.
Signs and Symptoms
Some 10 percent of people are heterozygous for the hereditary form of hemochromatosis (the most common); 0.5 percent inherited the genetic mutation from both parents, and are thus homozygous for the more severe disease form.
Confirmation may be obtained with genetic testing. If positive, relatives should be tested by age 30, if possible. The most important things to know about iron overload, according to Alex Vasquez, DC, ND, DO (inflammationmastery.com), are:
- It can happen to anyone at any age
- Testing with ferritin is essential-every-body should have this test not later than age 30 and then again at age 50
- Genetic testing for hemochromatosis will miss other primary and secondary forms of iron overload, so serum ferritin is the better test
The main reasons to suspect this diagnosis and talk to your doctor, include:
- Unexplained abnormalities in liver function tests or chronic liver disease such as cirrhosis.
- Cardiac enlargement with or without heart failure
- Diabetes mellitus
- Hypogonadism, with decreased libido and impotence in men
- Skin hyperpigmentation
- Unexplained fatigue
- Joint pain, especially involving the second and third finger joints
- Positive family history of iron overload
Luckily, hemochromatosis is readily treated by phlebotomy, or "bloodletting." People who have been diagnosed with hemochromatosis need to have regular (weekly or biweekly) phlebotomy until iron levels return to normal. They then need to be monitored to assess a subsequent phlebotomy schedule.
For example, a patient who has confirmed hereditary hemochromatosis (HH) with an estimated 10 grams of iron storage will need phlebotomy weekly for 50 weeks to deplete the excess stores. One "unit" of blood (500 mL) is taken weekly. Each 500mL of whole blood removed reduces iron load by about 250 mg. The goal is to get serum ferritin to 50-100 ng/mL.
Another option is chelation (binding) of iron. The main pharmaceutical product for this is called deferoxamine, but many iron-binders exist in nature, including tannins (black tea), oxalates (spinach), and calcium (sardines, yogurt, and robust greens such as kale). Consuming these foods may be a good option for maintaining optimal iron levels after the initial phlebotomy push.
Did You Know?
It's important to be well hydrated before and after bloodletting.