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Program Overview


Membership in the Alpha-1 Research Registry is currently open to individuals with Alpha-1 Antitrypsin Deficiency (AAT Deficiency or Alpha-1) and to carriers of the alpha-1 antitrypsin (AAT) gene. Individuals unsure of their Alpha status should consider free confidential testing through the Alpha-1 Coded Testing (ACT) Trial. 

AAT Deficiency

Severe deficiency is most often characterized by the "Pi Z" phenotype. The Pi Z phenotype specifies an alpha-1 antitrypsin (AAT) protein level below the threshold to protect the lungs from injury (typically 11 micromolar or 50 mg/dl). Individuals with this phenotype have two abnormal copies of the AAT gene, one being inherited from each parent. Other rare deficiency states besides "Pi Z" have been described and those persons are invited to submit data to the registry.

Carrier State

The Registry also includes carriers of one copy of an abnormal Z gene in order to facilitate the study of Alpha-1 genetics. Carriers of the AAT gene have one normal copy and one abnormal copy of the gene, one being inherited from each parent. Normal copies of the AAT gene are usually represented by an M and a carrier's phenotype is most often Pi MZ. Carriers of the AAT gene usually have higher blood levels of AAT protein than persons with two abnormal genes and usually have normal health.

If you know you have Alpha-1 or are a carrier of the AAT gene but do not know your phenotype (the individual letters of the Alpha-1 genes), the Registry staff is happy to consult with you on this issue and facilitate phenotyping if necessary.


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