What is Hemochromatosis?
Your journey starts here. Understand the basics of what hemochromotosis is
and how it can affect those diagnosed.
and how it can affect those diagnosed.
T H E BASICS |
T H E STATISTICS |
Hemochromatosis, also known as iron overload disorder, is characterized by the build-up of iron in the body, especially in the vital organs (heart, brain, and liver). There are four types of hemochromatosis. The type is determined by the age of onset and by the way it was inherited; type 1 is the most common and type 4 the least common. If detected early, hemochromatosis is highly treatable and unlikely to leave any lasting damage. Those with hemochromatosis lack or have malfunctioning proteins in their cells and possibly an ineffective version of the hepcidin hormone. In tandem, these vital features determine how much iron should be absorbed from the diet and how much should be released from storage.
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There are currently believed to be over 1 million Americans that have hemochromatosis. This makes it one of the most common genetic disorders in the United States. Type 1 hemochromatosis is the most common and studied variation. Through present in any ethnicity, those of Northern European descent have a staggering 1/250th chance of being a carrier for the mutated gene. Hemochromatosis affects slightly more males than females though this discrepancy is likely because it is less tested for in females due to the later onset of symptoms.
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Many with this disorder report lack of energy, weakness, abdominal pain, memory fog, loss of sex drive, heart flutters/irregular beats, and joint pain. Later, more mature symptoms can consist of pain in bones and joints, liver disease, diabetes, skin discoloration, impotence, and an enlarged spleen. Men normally report symptoms in their late 20's to early 30's. Women notice signs about 10-15 years after they have stopped having their period due to menopause or birth control. These symptoms can easily be overlooked by physicians who will likely test for other ailments. Many doctors arrogantly believe that this disorder is rare. It wasn't commonly diagnosed until the 1980's. Common blood work tests do not pick up hemochromatosis and specific tests should be requested by the patient if they have any suspicion.
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Hemochromatosis can be detected through simple blood work tests and cheek swabs. When detected early, hemochromatosis can be easily treated though never cured. If undetected, one may develop heart, liver, or gallbladder disease, cancer (extremely rare), or one of a variety of neurodegenerative diseases. Hematologists and hepatologists will likely be the best type of doctor to go see if you have hemochromatosis, though this amount of specialization will likely never be needed. Someone with this disorder will work to get their iron levels to a normal degree (50-150ng/mg of iron). This can be done using therapeutic phlebotomy or TP. This treatment is like a common blood donation except for the fact that it requires a doctor's prescription. TP can usually be performed at blood banks, doctor offices, and hospitals/outpatient centers. Donation requirements are based on the patient's body absorption rate and their diet, ranging from 8 times a week to every 2 to 4 months for the entirety of the patient's life. Blood approximately looses 30ng/mg of iron for every 500cc of blood drawn.
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GeneticsAfter coming this far, there are still many questions to answer. These questions stem form the genetics of this disorder. Why does my child have hemochromatosis? Where did they get it from? Where is the hemochromatosis gene located? All of your genetic questions await you in full detail within the coming pages. Enjoy your exploration!
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