Showing posts with label Inherited. Show all posts
Showing posts with label Inherited. Show all posts

Thursday, July 26, 2012

Hemochromatosis Awareness Month


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By Diane Forrest, RN

Hemochromatosis is a genetic disease that can be inherited from a child's parents, and which causes the child to absorb too much iron, leading to extra iron being stored in the child's liver, heart, pancreas, and other organs. And although this usually doesn't cause any symptoms in childhood, later in life it can cause them to have arthritis, heart problems, liver disease, diabetes, and many other medical problems.

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Symptoms include:
  • Generalized darkening of skin color (often referred to as bronzing)
  • Joint pain
  • Lack of energy
  • Loss of body hair
  • Loss of sexual desire
  • Weight loss
  • Weakness
  • Fatigue
  • Abdominal Pain

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Hemochromatosis can be diagnosed by a blood test, or a physical exam detecting enlarged liver and spleen and skin color changes.  Other tests include a liver function test and EKG.

Treatment includes a procedure called phlebotomy is the best method for removing excess iron from the body.

One-half liter of blood is removed from the body each week until the body iron level is normal. This may take many months or even years to do.

After that, the procedure may be done less often to maintain normal iron levels.

How often you need this procedure depends on your symptoms and your levels of hemoglobin and serum ferritin, and how much iron you take in your diet.


If you are diagnosed with hemochromatosis, you should follow a special diet to reduce how much iron is absorbed from your digestive tract. Your doctor or nurse will recommend:
  • Do not alcohol, especially if you have liver damage
  • Do not take iron pills or vitamins containing iron
  • Do not use iron cookware
  • Do not eat raw seafood (cooked is fine)
  • Do not eat foods fortified with iron, such as 100% iron breakfast cereals

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Early treatment can help prevent complications such as liver disease, heart disease, arthritis or diabetes. Screening family members of a person diagnosed with hemochromatosis may detect the disease early so that treatment can be started before organ damage has occurred in other affected relatives.

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For more information about hemochromatosis, click this site: http://www.hemochromatosis.org/

Sunday, February 5, 2012

Muscular Dystrophy


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By Diane Forrest, RN

For as long as I can remember, the name Jerry Lewis and Muscular Dystrophy have been synonymous.  Every year during the Labor Day weekend I would sit in front of the television to see what famous guest would show up.  I can remember Frank Sinatra, Dean Martin and Sammy Davis, Jr. stopping by, but in between the celebrities, they would show films of children who had been afflicted with Muscular Dystrophy.

Muscular dystrophy is a group of inherited disorders that involve muscle weakness and loss of muscle tissue, which get worse over time.  There are several different types, but Duchene and Becker are the most common.  Muscular Dystrophy is inherited, and normally begins at birth; however some types occur during adulthood.  Symptoms include:
  • Mental retardation (only present in some types of the condition)
  • Muscle weakness that slowly gets worse
    • Delayed development of muscle motor skills
    • Difficulty using one or more muscle groups
    • Drooling
    • Eyelid drooping (ptosis)
    • Frequent falls
    • Loss of strength in a muscle or group of muscles as an adult
    • Loss in muscle size
    • Problems walking (delayed walking)

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There is really no treatment for Muscular Dystrophy, the most important thing is to remain active.  Bed rest or inactivity will cause the condition to become worse.  There is no way to prevent the disease either, however, genetic counseling should be considered if there is a history of the disease in the family.  Muscular Dystrophy can lead to other serious conditions such as:
  • Cardiomyopathy
  • Decreased ability to care for self
  • Decreased mobility
  • Lung failure
  • Tightening of muscles around the joints (contractures)
  • Mental impairment (varies)
  • Scoliosis

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The millions of dollars being raised during the telethons are being used to research and find a cure for Muscular Dystrophy.  To see what you can do to help in this fight, visit:
http://www.mda.org/disease/

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