Mistake

In the post, more on Phil's HH, I mistakingly wrote that HH was a sex linked recessive disease, but it in actuality it is autosomal recessive.  I apologize for the inconvenience this may have caused any of my readers.

Sorry again,
Phil' Brother,
Oren

SOURCES

1. Hemochromatosis Gene." Oak Ridge National Laboratory. US Department of Energy (DOE). Web. 04 May 2011. <http://www.ornl.gov/sci/techresources/Human_Genome/posters/chromosome/hfe.shtml>.


2. Hemochromatosis." National Digestive Diseases Information Clearinghouse. NIDDK- National Institute of Diabetes and Digestive and Kidney Diseases. Web. 04 May 2011. <http://digestive.niddk.nih.gov/ddiseases/pubs/hemochromatosis/>.

3."Hereditary Hemochromatosis." Bookshelf. US National Library of Medicine, National Institutes of Health. Web. 09 May 2011. <http://www.ncbi.nlm.nih.gov/books/NBK22223/>.

Hope For a Cure

Through research, scientists are coming closer to a cure for HH. They are studying the HFE gene, and why its mutations can cause this disease. They are also studying the connection between genetics and why certain people absorb more iron from the foods that they eat.  Another intriguing topic scientists are trying to decode is why only certain people with the defected HFE gene are actually diagnosed with the disease.  Many have the mutation, so why do only some people actually get the disease?   In addition, screening and testing are issues that are under experiment today.  Questions such as what ages should be tested for HH, and which groups of people should be tested are being researched, and soon, resolutions will come to answer these important questions.  If continued support of HH organizations occurs, scientists will be able to quickly find a cure for HH.  Many advancements have been made thus far, so the sky is the limit for what can happen next.  Everyday, Phil wakes up considering himself lucky.  He knows that he is lucky to be alive, lucky to be surrounded by people who truly care for him, and lucky that through powerful research, HH may soon be cured, and that his life can be restored to a normal and healthy state.

Phil's Daily Life as of Recent

Last time I posted on the blog, I hypothesized that Phil had arthritis in his left wrist.  Last weekend, when Phil went to the doctor, he was indeed diagnosed with arthritis in his left wrist.  This news upset the entire family, as well as Phil, because he and us know that this is just the start of the health concerns that Phil may face.  His daily life has become increasingly difficult to live.  His lives on pain killers, and has a lot of trouble maneuvering around as he can not use his left wrist for support.  Another concern that has arisen for Phil is his heart.  While at his appointment, his doctor seemed slightly concerned with an irregular rhythm.  He reiterated that this could be caused by a number of different problems, but our family knew that this had a direct relation to Phil's HH.  Now, Phil is not allowed to exert himself to the fullest while playing sports, for fear of a possible heart attack.  Phil is concerned that something may one day occur that could truly harm him.  He knows this is not likely, but lives a life filled with speculation of what his next health problem, if any, may be.  He is uncertain about his physical condition, so he is extremely careful with his body.  He has begun a healthy diet and has reduced his athletics by a good amount.  If he continues to take precautions, he will be able to live a healthy life, but for now, we will just have to wait and see what will come next.

What caused Phil's HH

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.

More on Phil's HH

Although Phil tries not to let HH interfere with his daily life, he does know that he relies on monthly treatments to prevent pain, and sometimes other severe health issues.  He is never upset that he has been diagnosed with HH, but sometimes asks why.  Being that HH is a sex-linked recessive disease, the likelihood of him getting it was not high.  He wonders why he was faced with this awful disease, while no one else in the family was.  Only 0.5% of all caucasian people (other races are at extremely low risk for HH) carry two copies of the mutated gene, so he asks " why me"?

Right now, Phil's health issues are not a major concern.  He gives a pint of blood every few months so that his iron levels may decrease, but as he gets older, he will be at larger risks for different diseases.  These may include liver failure, arthritis, pancreatic damage, damage to the adrenal glands, and even impotency.  All of these awful diseases are a direct result of the build up of iron in tissue and organs.  This build up causes damage, which results in these potentially life threatening diseases.  Although  thoughts of his future health may be in the back of Phil's head, he keeps living his life the way he wants to; Full of joy and happiness.

Symptoms

A short while after phil turned 32, he had his annual check up, where he got his required blood test.  When the results returned, an unusually large amount of iron was found in his blood.  After further testing, it was revealed that Phil had too high of a transferrin saturation (over 45%), which is a huge sign of HH.  Transferrin is the protein that carries iron in blood and too much of it is found in all HH patients.  After this blood test, another confirmation blood test was taken to determine if Phil's HFE gene was indeed mutated.  When these results came back positive, we knew that he had HH.  It was also determined that both of our parents were carriers of the mutated gene but were not affected.  

The time after that was tough.  We had to notify family, friends and anyone close to Phil. We did not know if Phil was going to be okay, but after learning more about HH, we knew he would be fine if he was treated properly. We were overjoyed, and all took precautionary blood tests to see if anyone else had the disease.  Luckily, no one did, and now, two years after Phil's diagnoses, we are all living normal and great lives.