Sterlingd+Alpha-1+Antitrypsin+Deficiency

Alpha-1 antitrypsin Deficiency

**Description: **
== **Alpha-1 antitrypsin Deficiency is caused by a mutations in the serpinal gene on chromosome 14. this gene codes for enzymes called Alpha-1 antitrypsin. It is produced in the liver and released into the blood ultimately to defend the lungs from attack by and enzyme called neutrophil elastases. ** ==

**Inheritance: **
== **Alpha-1 is a recessive disorder a children would have inherit a abnormal gene from each parent to develope this disease. Say a **** child inherits a normal gene from the dad or mom and an abnormal gene from the other, she or he would only be a carrier. Carriers make lower than normal levels of the alpha-1 antitrypsin protein, but they still have a good amount of it to defend their lungs. ** ==

**Symptoms: **
== **Alpha-1 antitrypsin deficiency damages the tiny air sacs (alveoli) in the lungs. When the alveoli are damaged, the lungs aren't able to expand and contract well enough for the person to breathe normally. Patients may feel short of breath, and they may cough or wheeze. As the lungs deteriorate, many patients develop lung diseases, such as emphysema, asthma, or chronic bronchitis. ** ==

**Diagnosis: **
== ** Alpha-1 is often misdiagnosed, its symptoms look similar to the symptoms of asthma, bronchitis, or smoking-induced emphysema. Doctors can test for Alpha-1 by checking the patient's blood for abnormal alpha-1 antitrypsin. ** ==

**Treatment: **
**Most doctors inhance the amount of alpha-1 antitrypsin in a victims blood with augmentation therapy. The patient is given doses of alpha-1 antitrypsin from the blood of healthier donors. **

**Research: **
== **Right now researchers are currently testing with gene therapy. The patient is given the good gene using modified virus, not like the viruses that make us ill, this new virus infects the victims cell and makes them to start producing normal genes. ** ==

**Additional Facts: **
== ** Alpha-1 is more likely for Caucasians, 1 in 2,500. alpha-1 is the most common autosomal recessive disorders among this population. Alpha-1 is hard to notice because people are often unaffected until adulthood. 95% of people who have alpha-1 antitrypsin deficiency have never been diagnosed. ** ==

**Punnett Square: ** 

**Pedigree Chart: ** <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 14.25pt; margin-bottom: 0pt;"> **<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Resources: ** <span style="color: black; font-family: 'Arial','sans-serif'; font-size: 13px; line-height: 115%;">[|Learn.Genetics™]

<span style="color: blue; font-family: 'Arial','sans-serif'; font-size: 13px; line-height: 115%;">Pub Med Health