Alpha-1 Antitrypsin Deficiency


Description:
Alpha-1 is caused by mutations in the SEPRINA-1 gene on chromosome 14. It’s located in your liver and travels though the blood stream. When mutated, the protein gets stuck in the liver and can’t be released in the blood stream. Alpha-1 protects the lungs, but without this protein, it leads to vulnerability against neutrophil elastase. It can damage tiny air sacs in the lungs. Accumulation can also damage the liver.

Inheritance:
This disease is an autosomal recessive disorder. Only one irregular gene can cause alpha-1 antitrypsin deficiency. You inherit it when both parents are carriers and in an offspring, 50% would be carriers, and 25% would be normal or diseased. Also, if a carrier, you produce less alpha-1, but just enough to protect your lungs.

Symptoms:
Symptoms for this disorder would be alveoli damages in the lungs, short breaths, wheezing, lung diseases, panniculitis, and unintentional weight loss. Without alveoli, your lungs can’t expand and contract normally. It can lead to lung diseases like emphysema and chronic disease. 10% of infants and 15% of adults gain liver damage from this.



Daily Life:


Diagnosis:
This disorder can be misdiagnosed for asthma and bronchitis. You can get tested by checking blood samples and x-ray scans on the chest can also show signs of the disorder. Other tests include genetic testing and lung function tests. You can also be diagnosed with it by checking family history and finding someone who has it in the family tree. Also, if you have emphysema, since causes of it are from alpha-1 deficiency.

Treatment:
Options for treating this disorder is process of augmentation therapy, receiving healthy blood donations, and avoid smoking. You may also receive plasma that has the protein. Doing therapy doesn’t cure it, but it slows the process of alpha-1 deficiency. You can also take in inhaler steroids for the lungs. If the disorder worsens, you can have a lung transplant if you have a chance of survival. Also, oxygen tanks can be used for the decrease of oxygen in the lungs.




Research:
Research that’s being done is gene therapy. Scientists give patients healthy genes with a modified virus. The virus infects cells to produce normal genes. Using inhaler steroids is also in process of testing.


Additional Facts:
Some other facts are Caucasians are mostly inherited by alpha-1 antitrypsin deficiency. It affects 1 in 2500 people. It’s also the most common autosomal recessive disorder. You should also stay away from smoking and tobaccos if you have never been diagnosed. Diagnosis can lead to misdiagnosis. Its conditions are related bronchitis and emphysema.


Punnett Square:



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Pedigree Chart:



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Pictures:


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Resources:
For more information, go to these websites.

http://learn.genetics.utah.edu/units/disorders/
http://medlineplus.gov/
http://www.webmd.com/