DNA Hemochromatosis Test
What is hemochromatosis? Hereditary hemochromatosis is the most common genetic disorder in the western world, with 1 in 9 people of European ancestry carrying one of the HFE mutations linked to hemochromatosis. 1 in 200 Europeans inherit two defective HFE genes, (one from from each parent), and are at increased risk of absorbing too much iron from their diet. This excess iron is unable to be excreted, and accumulates in organs and tissues, eventually causing organ damage and serious health complications. If detected early, this disorder is treatable and the health complications can be avoided. This genetic analysis identifies the most common HFE mutations that cause hereditary hemochromatosis:
How common is hemochromatosis? Hemochromatosis is the most common genetic disorder for individuals of European descent. About 1 in 9 individuals of European ancestry carry at least one defective copy of HFE. Approximately 1 in 200 individuals of European ancestry carry two defective copies of HFE and are at increased risk of developing hemochromatosis. While both men and women can inherit the defective gene, men are more likely to be diagnosed. On average, men develop symptoms between the ages of 30-50, compared to women who are diagnosed after 50, often 10-15 years after menopause. Symptoms of hemochromatosis Hemochromatosis is hard to diagnose, because it involves symptoms that are also seen in many other health conditions. Excess iron accumulation occurs in affected individuals from a young age, but the symptoms of hemochromatosis do not appear until later in life. Men generally begin to show symptoms in their early 40s, while women have a later age of onset, due to the loss of blood (and excess iron) each month during menstruation. Early symptoms include:
- Fatigue and weakness
- Characteristic “Iron Fist” (knuckle pain)
- Memory problems
- Shortness of breath
- Heart flutters
- High blood sugar
- Low thyroid function
- Irregular heart rate and heart failure
- Enlarged liver, resulting in cirrhosis, liver disease and liver cancer
- Osteoarthritis and osteoporosis
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