Hemochromatosis

Hemochromatosis  || Symptoms usually start to appear around 50-60 in men, and after 60 in women. Chronic fatigue and joint pain are often the first symptoms experienced by people with hemochromatosis. Once iron overload is present, some symptoms and signs include abdominal pain, liver disease (cirrhosis, liver cancer), irregular heart rhythm, heart failure, diabetes, change of skin color, depression, and hair loss. ||
 * === 1. Who first discovered this disorder? Where, when and under what circumstances was it discovered? === || Armand Trousseau first described Hemochromatosis while studying diabetes
 * === 2. What are the symptoms/characteristics associated with this disorder? At what age do the symptoms begin? Are the symptoms treatable? If so, how? Is the disorder fatal? === || Hereditary hemochromatosis is a genetic disease that alters the body's ability to regulate iron absorption, causing the body to absorb too much iron. If diagnosed, it is easily treated, however, if not, it can lead to severe organ damage.
 * === 3. What is the inheritance pattern of the disorder: dominant, recessive, sex-linked, autosomal, other? === || Hemochromatosis is a genetic disorder. Types 1, 2 and 3 are inherited in an autosomal recessive pattern. So, it is often carried in both parents, but not necessarily shown. ||
 * === 4. Are there any environmental factors that can affect the symptoms (either aggravate or alleviate)? === || Symptoms of Hemochromatosis can be look and progress differently depending on lifestyle factors like amount of iron in one’s diet, alcohol use, and infections. ||
 * === 5. How common is the disorder? Does it occur more frequently in certain parts of the world or in certain ethnic groups or in one sex? === || Hemochromatosis is one of the most common genetic disorder in the United States, with Caucasians of Northern European descent being at the highest risk of developing it. This includes people with ancestry from Scotland, Britain, Germany, France, northern regions of Spain and Italy, etc. This disorder is also more severely expressed in males. ||
 * === 6. What tests are done to confirm a diagnosis of this disorder? === || Symptoms are hard to diagnose, since many are similar to other common diseases. Blood tests can measure levels of transferrin, a protein which transports iron in blood. If there are high levels of transferrin, that could be an indication of hemochromatosis. Gene testing can also identify the disease, but is only 85% effective, and can sometimes identify people with two copies of the mutant gene who will never actually develop the disease. ||
 * === 7. Which chromosome(s) is responsible for this disorder? Is it caused by a gene mutation? Which gene is involved? Is it caused by a chromosomal mutation? Which type: nondisjunction, deletion, inversion, etc.? === || Hereditary hemochromatosis is caused by the HFE gene, which can be found on chromosome 6. Most cases of the disorder are caused by a mutation in this gene, called C282Y, where a frameshift deletion of parts of the HFE gene occur.

|| Sources: - [|http://www.irondisorders.org/classic-hemochromatosi]s - [] - [|https://ghr.nlm.nih.gov/condition/hereditary-hemochromatosis#inheritance] - []