The gene HFE is responsible for regulating the amount of iron that the body absorbs from food. When this gene is mutated, a different form of it is present. This form is called C282Y. The C282Y mutation substitutes tyrosine for cysteine, which is not supposed to occur. This change does not allow a specific bond to occur in the protein product of the HFE gene, causing the protein to not work correctly which results in the build up of iron that HH patients have. Overtime, this can result in damaged tissue and organs, which can cause a multitude of side effects which can even include liver cancer.
Over the past six month's Phil has began to experience slight difficulty in using his left wrist for some daily activities. At his next doctor appointment, Phil will probably get checked for arthritis in this wrist. If I had to hypothesize, I would say that the HH caused a large build up of iron in the tissue surrounding his wrist, causing minor arthritis. He takes pain-killers when the pain acts up, but luckily this is not frequent, so he can do normal activities for the most part. All we can do is hope that this one slight problem does not become a trend, and that Phil is not faced with more complications from HH.
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