Hemochromatosis Test: What Is the Best Screening Test for Genetic Hemochromatosis?

Before we go into testing and what the best screenings are for hemochromatosis, let’s first dive into what this mouthful of a word refers to.

Hemochromatosis is a disorder relating to iron storage within the body. More specifically, the term refers to a condition whereby too much iron builds up in the system. It also called “iron overload.” In a healthy organism, the body has a way to determine just the right amounts of iron that it needs and it absorbs that from the foods that are eaten. In the case of hemochromatosis, too much iron is absorbed. The symptoms manifest themselves as the body’s inability of getting rid of the surplus, so it stores it all in the best way it knows how, namely in joints and in organs like the liver, heart, and pancreas. But too much of a good thing is never pleasant, so this, as you may have guessed, damages these storage places. If left untreated, hemochromatosis can lead to a situation in which these organs stop working.

The disease comes in two types, namely primary and secondary. Primary—or hereditary—hemochromatosis runs in families. If an individual inherits a mutation for this disease from her mother and one from her father, she will be at a higher risk for it. Hereditary hemochromatosis (HH) is an autosomal recessive disorder, which basically means that an individual will only be affected if a child receives a copy of the mutation from both the parents. If both copies of the mutation are present, the individual is said to be homozygous for the mutation. There are three most common mutations that are found within the High Iron Fe(HFE) gene in affected individuals. These include C282Y, H63D,and S65C, in order of most to least common.

Secondary hemochromatosis, on the other hand, is the result of other conditions such as liver disease, too many blood transfusions and certain types of anemia.

The list of symptoms of hemochromatosis is rather long, and it includes conditions such as fatigue, irregular heartbeat, joint pain, stomach ache, decreased libido as well as memory loss. Furthermore, some affected individuals who are asymptomatic are thus unaware of the fact that they are affected end up not treating it and suffering secondary conditions including diabetes, arthritis, liver problems, as well as erectile dysfunction.

Testing begins with a clinical suspicion of HH.

So, what is the best screening test for genetic hemochromatosis? That is difficult to answer. Overall, there are two tests that doctors typically prescribe if they suspect hemochromatosis. These are transferring saturation, a method that reveals the concentration of iron that is stuck to transferrin, or the protein that carries iron in the blood. The second test is serum ferritin. It looks for the amount of the protein (ferritin) that stores iron in the blood.

Furthermore, when thinking about how to proceed in terms of testing and determining disease presence in potentially affected individuals, physicians typically follow a chart.

Testing begins with a clinical suspicion of HH. If confirmed, patients undergo testing for transferrin saturation. If the saturation is >45%, the test is repeated along with testing for ferritin concentrations. If ferritin concentrations are higher than normal, physicians look for clues that may point to a secondary iron overload that may be skewing the results. If a secondary cause for elevated iron levels is ruled out, genetic testing is performed whereby HFE genetic testing is performed on individuals’ blood to look for a C282Y homozygote. If the genetic results are positive, the patients who also have ferritin levels that are lower than 1,000 mcg/L as well as normal aspartate aminotransferase levels, physicians order a phlebotomy. If the above combination is negative, a liver biopsy test is ordered along with testing of hepatic iron concentration tests. This test is also ordered for individuals who have negative genetic mutation results.

Overall, as you may have guessed by now, there is no easy way to say which test is really the best when it comes to genetic hemochromatosis. As mentioned above, there is a cascade of tests that are used in suspected individuals simply because the condition is dynamic as the symptoms may either point to several other conditions that came before or that are the result of the actual disorder. You may wonder why doctors don’t simply jump to a phlebotomy right away as a sure way of knowing. The thing is, as said before, there is no sure way of knowing. It is a complex disorder with several aspects that all need to come together and align for the physician to be able to diagnose it confidently.

Detecting hemochromatosis—either primary or secondary—is vital for patient survival as the outlook largely depends on how early the disease was detected. The earlier it is detected, the lower the chances are for possible organ damage, which, in turn, means that the chances of survival are much higher. Early detection and treatment are beneficial for several reasons. One of the most important ones is that treatment may be an effective way to prevent, delay or sometimes even reverse complications of hemochromatosis.

Treatments include therapeutic phlebotomy, or frequent blood extraction as a means to maintain low iron levels in the body, and iron chelation therapy, or removal of excess iron from the body via medications. Other ways to treat or manage hemochromatosis is through life changes such as a proper diet.

Needless to say, for those who are diagnosed and treated on time, a normal lifespan is expected. However, at the opposite end of the spectrum, if not treated, it can lead to severe organ damage that, in turn, may lead to death.

Laura Day