Garrisonc+Alpha-1-Antitrypsin

Alpha-1-Antitrypsin Deficiency Alpha-1-Antitrypsin Deficiency (Alpha-1) is caused by mutations in the serpina-1 gene on chromosome 14. What’s needed is an enzyme called alpha-1 antitrypsin which is produced in the liver and released in the blood stream to protect the lungs from the neutrophil elastise, that is produced after an infection to tissue in the lungs. Since the alpha-1 is mutated, it gets stuck in the liver and is not released, which then cannot protect the lungs.
 * Description: **


 * Inheritance: **

Alpha-1 is an autosomal recessive disorder. To actually be affected by this disorder someone must inherit abnormal genes from BOTH parents. If only one parent has an abnormal gene, then the offspring would only be a carrier. However if both parents have abnormal or mutated genes, then there is a 25% chance that the offspring would not be a carrier and he/she wouldn’t be affected, a 50% chance that the offspring would be a carrier and would/wouldn’t show symptoms, and a 25% chance that the offspring would be a carrier and would definitely be affected by all of the symptoms.

Alpha-1 affects the alveoli in the lungs which help you breathe. So, when the alveoli are damaged, your lungs aren’t able to expand and contract like normal lungs do. Affected people may have shortness of breath; they may cough and wheeze and will probably develop asthma if they don’t already have it. Later on, one may develop lung diseases such as emphysema and chronic bronchitis. The liver of a person with Alpha-1 may be affected as well.
 * Symptoms: **


 * Daily Life: **

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 * Diagnosis: **

Alpha-1 is diagnosed by testing a sample of blood for abnormal alpha-1 antitrypsin levels and by measuring lung and liver function. To do this, doctors can do chest X-rays, lung function tests, lung volume measurements and blood tests. However, many doctors often mistake this disease for symptoms of other diseases. These unrecognized symptoms mislead doctors to believing this disease could be asthma, bronchitis or smoking-induced emphysema.

Alpha-1 is treated by having doctors increase the levels of antitrypsin through augmentation therapy. One with alpha-1 is given injections of antitrypsin from someone with overly-high levels of antitrypsin on a weekly basis. Therapy does not cure this disorder however, but it does slow its progression. For asthmatic and bronchial symptoms, an inhaler is used to ease the breathing and wheezing.
 * Treatment: **

Right now, researchers and doctors are testing gene therapy which is where a person with alpha-1 is given a healthy, functioning gene by a modified virus. Even though a virus usually makes healthy people sick, this type of virus causes the liver to start producing normal genes and normal levels of antitrypsin.
 * Research: **

*Caucasians are more likely to have this disorder rather than other ethnicities. *This disease affects 1 in 2,500. <span style="color: black; font-family: Times,serif; font-size: 12pt;">*It is the most common autosomal recessive disorder. <span style="color: black; font-family: Times,serif; font-size: 12pt;">*People are often not diagnosed until adulthood and mostly 95% of affected people are not even diagnosed. <span style="color: black; font-family: Times,serif; font-size: 12pt;">*For someone with this disease, it is best for them to stay away from smoking tobacco because smoking will only worsen the symptoms.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Additional Facts: **


 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Punnett Square: **




 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **

Pictures: Alpha-1 Antitrypsin Deficiency really doesn't effect the physical traits of someone with this disease. Therefore, you can look as normal as this little girl does beneath this caption. However, a very select few who have this disease can be affected by little pinkish-reddish bumps on the body. Whether it's the face, the arms, the legs, the back, wherever it may take its toll.




 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **

<span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">NCIB (National Center for Biotechnology Information). Bethesda MD. Online Book. 1998. <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">Learn.Genetics. Alpha-1. <span style="font-family: 'Times New Roman',serif; font-size: 12pt;">[] <span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">. 5/18/11.

<span style="color: blue; font-family: Arial,sans-serif; font-size: 10pt;">Pub Med Health