edwardssy+alpha-1+antitrypsin+deficiency

__Alpha-1 Antitrypsin Deficiency (Alpha- 1) __ Alpha- 1 is caused by a mutation on the serpina1 gene on chromosome 14. Alpha- 1 is produced in the liver and is released into the blood to protect the lungs from attack by an enzyme called //neutrophil elastase//. It is produced by white blood cells in response to the infection to digest damaged tissue in the lungs.
 * Description: **


 * Inheritance: **

Alpha- 1 is an autosomal recessive disorder; one abnormal gene must be inherited, by the child, from each parent. If one abnormal gene from one parent is inherited, the child becomes a carrier.

Alpha- 1 damages the alveolis in the lungs. They have trouble expanding and contracting, so the person has trouble breathing normally. People with Alpha- 1 can be short of breath, and may cough or wheeze a lot. Patients can develop lung disease, like emphysema, asthma, or chronic bronchitis.
 * Symptoms: **


 * Daily Life: **

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 * Diagnosis: **

Alpha- 1 can often be misdiagnosed because the symptoms of Alpha- 1 often look like asthma, bronchitis, or smoking- induced emphysema. Doctors can treat the Alpha- 1 antitrypsin levels in the patient’s blood. Doctors can also use x- rays to measure lung and liver functions. Also, lung function tests, lung volume measurements, and blood tests can help diagnose Alpha- 1.


 * Treatment: **
 * Doctors give the patient a shot. It increases the amount of Alpha -1 antitrypsin, to protect the lungs. That is done weekly by giving the patient a shot of a healthy donor’s blood to boost the Alpha- 1.
 * Doctors can also give the patient a healthy gene, modified from the disease . This helps the patient produce healthy genes.
 * Doctors prescribe asthma medication.
 * Patients that have had Alpha- 1 for along time may need an organ transplant, because of lung or liver damage.

Although there is no known cure for Alpha- 1, there are treatments to help live with it. The Israeli biopharmaceutical specializes in developing proteins from the human plasma. <span style="color: black; font-family: Times,serif; font-size: 12pt;">If the lungs or the liver are too damaged, the patient could get a transplant. <span style="color: black; font-family: Times,serif; font-size: 12pt;">People can exercise, quit smoking, and watch their diet to help.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Research: **


 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Additional Facts: **
 * ======<span style="color: black; font-family: Times,serif; font-size: 12pt;">Alpha- 1 affects 1 in 2,500 people. ======
 * ======<span style="color: black; font-family: Times,serif; font-size: 12pt;">It is the most common autosomal recessive disorders. ======
 * ======<span style="color: black; font-family: Times,serif; font-size: 12pt;">95% of people who have Alpha- 1 have never been diagnosed. ======
 * ======Patients should stay away from tobacco.======
 * ======<span style="color: black; font-family: Times,serif; font-size: 12pt;">Smoking worsens the disease. ======
 * ======<span style="color: black; font-family: Times,serif; font-size: 12pt;">Michael Jackson was suspected of having Alpha- 1(has not been proven). ======
 * ======<span style="color: black; font-family: Times,serif; font-size: 12pt;">Former NFL player and coach, Monte Clark, has Alpha- 1. ======
 * <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:**




 * This image (Above) from...**


 * http://learn.genetics.utah.edu/units/disorders/whataregd/**

__Internet-__ __Books-__
 * <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;">[|http://ghr.nlm.nih.gov] **
 * __<span style="color: black; font-family: 'Times New Roman',serif; font-size: 12pt;">[] __**
 * __Dieseases Infants and Diesease- Multiple Sclerosis__-** Edited by: Bryan Bunch

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