Reviewed by Robert A. Sandhaus,

Alpha-1 Antitrypsin Deficiency or Alpha-1 for short, is an inherited genetic disorder.  Alpha-1 is caused by a deficiency in alpha-1 antitrypsin.

Alpha-1 antitrypsin is a major protein in the blood produced mainly in liver cells. It protects the lung by blocking the effects of a powerful enzyme called elastase. Elastase is normally carried in the body's white blood cells and is used by these cells when they kill invading bacteria and neutralize tiny particles inhaled into the lung. Alpha-1 antitrypsin inactivates elastase once it has finished its job. Without alpha-1 antitrypsin, elastase can destroy the normal air sacs of the lung.

Although there are many different genetic variations of this protein, only some will cause lung disease. The most common variant of the protein is often seen in people of northern European descent, especially Scandinavians. But recent evidence shows that Alpha-1 can be found in all populations and all ethnic groups.

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