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What is Hemochromatosis? |
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Symptoms
Hemochromatosis is a genetic condition which causes the afflicted person to absorb excessive levels of iron from an otherwise regular diet. The surplus builds up on the vital organs, particularly the liver, heart, and pancreas. This can cause injury to them, leading to life-threatening diseases like cancer, cardiac problems, and liver failure. The birth defect which causes the condition usually shows symptoms later on in life, as early as thirty years old in men, and after menopause in women. This is indicated by arthritis, fatigue, impotence, stomach pain, high amounts of sugar in the blood, amenorrhea, and hyperthyroidism; people who are on the progressive stages of hemochromatosis can also bear a bronze or gray-colored complexion, as caused by the excessive iron deposits on the skin cells.
Causes
There are about thirty thousand genes in the body, and a mutation in any one of them can cause drastic changes in the body. HFE is the gene which regulates the levels of iron which can be absorbed from food, and it has two usual mutations, referred to as C282Y and H63D. Most people who have hemochromatosis inherit a C282Y copy from both parents; obtaining just one copy causes the body to absorb higher-than-normal iron levels, but if both parents are carriers of a the C282Y gene, a person has a twenty-five percent chance of inheriting both of them. Although hemochromatosis usually occurs in adulthood, juvenile hemochromatosis is also possible, and is fatal if left untreated. The condition may also progress in the womb, causing rapid iron buildup in the fetus’ body, and leading to stillbirth or death after a few days of delivery.
Diagnosis
The iron buildup in the body can easily be detected through two blood testing procedures: serum transferring saturation measures the iron levels which bind to a specific protein (transferrin), the latter responsibly for the distribution of iron in the bloodstream. Serum ferritin measures the iron levels which is stored in the body. The former test is usually first performed, and if the results are higher than usual, the latter will be conducted. If a person is diagnosed with hemochromatosis, a liver biopsy may be performed to measure the iron buildup in the organ, or genetic testing may be done to confirm the initial diagnosis.
Treatment Info
Hemochromatosis can be efficiently treated through the regular removal of blood from the patients system, with a process similar to those performed on people who intend to donate blood (phlebotomy). The purpose is to bring down the iron levels to normal, and the amount of blood which is to be taken will depend on the patient’s age and general health. A pint of blood is initially drawn up to two times a week until the iron in the system reverts to normal amounts, and from then on, bloodletting is performed on a quarterly basis. This should be opted for before any signs of organ damage develop, but if the patient already has problems with the liver or the heart, or if diabetes is acquired, phlebotomy can efficiently hamper the progress of the disease, and may even be able to reverse it.
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