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Hemochromatosis gene may give athletes an edge

What is Hemochromatosis?

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Hemochromatosis is a rare genetic disease that causes iron to accumulate in the body.  Too much iron can have devastating effects.  People with hemochromatosis can develop “iron overload”.  We need iron to form hemoglobin and carry oxygen to our tissues, but too much can lead to cellular damage, diabetes, cardiovascular disease and possibly cancer.  The gene that causes hemochromatosis is called the HFE gene.  A mutation in this gene results in a protein that makes iron absorption very efficient.  In order to get hemochromatosis you need to have two mutated copies of the HFE gene.  The most common form of hemochromatosis (p.c282y) appears in about 2-5 people per thousand among Caucasians.  It is more common in some areas (1-2% in Ireland).  More people have a single mutated hemochromatosis gene.  About 5-14% of Western Europeans carry one.  About 6-7% of non-Hispanic White Americans carry it.

Benefits of a Hemochromatosis gene mutation?

It is possible that having a single Hemochromatosis gene is beneficial.  Studies have shown that women with a single copy are less likely to be anemic and less likely to be iron deficient (Datz et al. 1998).  People with two copies of the hemochromatosis also absorb more zinc, copper and manganese.  At present, it is unknown if people with single hemochromatosis genes do as well.  If yes, people with a single hemochromatosis gene may be protected from several nutritional deficiencies.  In any case, it looks like people with single copies may have an advantage in that they have some protection from iron deficiency.   Iron is critical to life.  It is also critical to athletic performance.   Having that HFE gene may protect an athlete from low iron or anemia.  It may be significant.  A recent study of French Olympic Rowing, Judo or Nordic Skiing Champions (Hermine et al. 2015) found that 80% of them had a single copy of the hemochromatosis gene mutation.  The frequency of a single HFE mutation was 50% for Olympic athletes who did not medal.

Genetics may help, but hard work, smart training and good nutrition are key.

Elite athletes may have “better” genetic profiles for sports than the general population.  But once they are at the elite level, they are separated coaching, training, nutrition, personality and luck (Santiago et al. 2010).  These factors will be what matter most for those without “better” genetic profiles as well. If the results of the French study (Hermine et al. 2015) are typical, 20% of Olympic Champions and 50% of Olympic athletes may be “just average” people. At least as far as the HFE gene is concerned.  If you have a great genetic profile, be grateful, but don’t forget you can still get your ass kicked by an average Joe or Jane.

Low iron is sometimes overlooked in athletes.  Intense training can speed iron loss.  Combine that with a poor diet or under-eating to make a certain weight and you may find your athlete struggling.  It can be a problem, especially for young women, that more training or another rest day may not solve. Female athletes who have stopped having periods seem to be prone to anemia (as well as bone thinning).  Click here to get info on tests for anemia.  Eat well my friends.  Train well.  Be reasonable.



Barton JC, Edwards CQ, Acton RT.  2015.  HFE gene: Structure, function, mutations and associated iron abnormalities.  Gene.  574: 179-192. 

Hermine O, Dine G, Genty V, Marquet LA, Fumagailli G, Tafflet M, Guillem F, Van Lierde F, Rousseaux-Blanchi, Palierne C, Lapostolle JC, Cervetti JP, Frey A, Jouven X, Noirez P, Toussaint JF.    2015.  Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene.  Biochemie.  119: 1-5. 

Santiago C, Ruiz JR, Munjesa CA, Gonzalez-Friere M, Gomez-Gallego F, Lucia A.  2010.  Does the poygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing.  Scand J Med Sci Sports.  20(1): e188-94.