Alpha-1 at MUSC A shared voice for patient empowerment

Alpha-1 Coded Testing (ACT) Study

Medical testing

Alpha-1 testing requires a blood sample, which may be obtained by a finger stick or by a standard blood draw.

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Online Alpha-1 Foundation Research Registry

Medical research

Help find a cure for alpha-1 antitrypsin deficiency by enrolling in the Alpha-1 Research Registry online today!

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MUSC Biorepository

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The goal of the MUSC Biorepository Portal is to identify, stimulate, coordinate and support research for Alpha-1.

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Alpha-1 Genetic Counseling Program

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The Alpha-1 Genetic Counseling Program provides telephone-based free and confidential genetic counseling.

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What is Alpha-1?

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age. People who inherit Alpha-1 do not make a protein called alpha-1 antitrypsin (AAT) in the normal way. AAT is made in the liver and circulates in the blood to protect the lungs from damage. The way people make AAT is determined by genes. People who inherit two abnormal copies of the Alpha-1 gene do not have enough AAT in their blood, which makes lung tissue more prone to damage. Lung disease may occur naturally over time and is worsened by environmental exposures such as smoke and pollution. Sometimes, abnormal AAT accumulates in the liver, which causes liver disease.
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