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| Genetic Emphysema |
Question:
Is there a genetic cause for emphysema?
Answer:
The inherited form of emphysema is called alpha-1 proteinase inhibitor
deficiency or "alpha - one" for short. Some time subsequent to 1973, a genetic cause of
emphysema was discovered. In an article in the latest
on-line edition of Grolier's Encyclopedia, Howard
Buechner, M.D., explains that a significant number of
the people with the disease lack a gene that controls
the liver's production of a protein called alpha-1
antitrypsin (AAT).
A simple blood test can determine whether a person has low levels of
the protective protein AAT. Approximately one in 2,500 people has
this inherited deficiency. Most of them are of Northern European
descent.
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