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Hemochromatosis is a genetic condition of iron overload affecting approximately 1 out of 200-300 people, with 1 in 8-10 people being carriers.
It has touched my life as well as my families as well. My grandmother and several great uncles have died from hhc and many other familiy members may be undiagnosed. We under go testing each year to make sure it is under control. What is it you may ask? Read on...
A person who inherits the gene for the disorder from one parent may have a mild case of iron overload but complications are not common. However, if both parents pass along the gene, the person eventually at some point of their life will suffer from the iron overload and the damage is irreversable if not treated early, and can often be fatal.
Currently, routine medical care or checkups usually do not include testing for hemochromatosis and many cases may remain undetected.
People who have a close blood relative with hemochromatosis, as well as persons who have the signs and symptoms compatible with hemochromatosis should talk with their health care provider about the possibility of being evaluated for hemochromatosis.
What is Hhc?
Hemochromatosis is an inherited disorder of the small intestine that causes a person to absorb too much iron from their food. Over time, iron builds to toxic levels and destroys many organs. It is also known as Herditary Hemochromatosis. If diagnosed early the sufferer has a chance at living a normal healthy life with treatment. If untreated the damage is irreversible and can be fatal.
If hemochromatosis isn't treated early, it could lead to serious conditions. Iron can accumulate in body tissue and cause damage to organs. You can have Hemochromatosis and have No symptoms! You can also have one or more of the below symptoms, some being from the early stages through to the late stages...
These symptoms may include:
Arthritis
Liver disease (hepatitis, cirrhosis, cancer) or liver failure
Irregular heartbeat
Congestive heart failure
Damage to the pancreas
Diabetes
Damage to the adrenal gland
Impotence
Early menopause
Thyroid deficiency
Bronze or gray discoloration of the skin
Hypogonadism (deficient activity of testis or ovary)
Chronic Fatigue
Severe Abdominal Pain
Bouts Of Nausea
Diminished Memory
Disorientation
Hearing Loss
Mood Swings
Depression, Psychiatric Disorders
Arthritis Of The Knuckles (of the first and second fingers and thumb)
Joint Problems
Testicular Atrophy, Impotence
Infertility, Sterility
Loss Of Libido
Chest Pain, Shortness Of Breath
Arrythmias, Rapid Pulse, Irregular Heartbeats
Congestive Heart Failure (CHF)
Cirrhosis (even if you are not a drinker!!)
Cancer Of The Liver, Pancreas
Elevated Liver Enzymes, Liver Failure
Abdominal Pain And Tenderness (especially in the right side)
Bronze Diabetes
Psuedogout
Pituitary Gland May Be Affected
Hypothryroidism
Rusty Or Gray Tone To The Skin
Hair Loss Or Early Graying
Always Feeling Cold
Frequent Infections, Flus, Colds, Weakened Immune System
Diagnosing Hhc
If you are suspected of having the disease, you can have one or several blood tests that indicate iron abnormalities in different ways. These blood tests can include:
Serum iron
Total iron binding capacity (TIBC)
Transferrin
Hemoglobin and Hematocrit
Ferritin
Serum Transferrin Receptor
Transferrin iron saturation percentage (TIS%)
Doctors also may order a liver biopsy (the removal of a small amount of liver tissue) to determine how much iron has built up in the liver.
Because high levels of iron and many of the symptoms of hemochromatosis can be caused by other conditions, doctors will screen for the defective gene that causes the disease. If a person does not have the gene, then hemochromatosis is ruled out.
Treating Hhc
If doctors diagnose hemochromatosis early, it is easily treatable. Hemochromatosis is not something that is curable, the iron will never go away. People who recognize the symptoms and are diagnosed early can go on to live normal, active lives, says the American Liver Foundation.
Hemochromatosis is treated by drawing blood (phlebotomy) to remove excess iron from the body and keep it from building up in organs. For the first 18 months, blood is drawn once or twice a week. After the patient has had their ferritin reduced below 10 they are declared deironed. After that, blood is drawn once every 2 to 6 months for the rest of the person's life.
After every so many phlebotomies, the doctors will usually test your blood to check on your progress and continue to make sure that iron levels are returning to normal acceptable levels. Maintenance will have to be a life time affair from this point on. To allow the accumulation of iron to build back up is essentially a death sentence.
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