Alpha 1 Antitrypsin Deficiency - Genetic Testing

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Have you had genetic testing for alpha-1 antitrypsin deficiency? If so, what were the results?

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What genes are related to alpha-1 antitrypsin deficiency?

Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency.

The SERPINA1 gene provides instructions for making a protein called alpha-1 antitrypsin. This protein protects the body from being damaged by a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (such as lung tissue) if not carefully controlled by alpha-1 antitrypsin. Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin protein or an abnormal form of the protein that cannot control neutrophil elastase. Uncontrolled, neutrophil elastase destroys alveoli, which can lead to emphysema. The abnormal form of alpha-1 antitrypsin can also accumulate in the liver and may damage this organ.

Return to Alpha-1 Antitrypsin Deficiency

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Comment from: aboss, 65-74 Female (Patient) Published: March 07

The result was cx1-antitrypsin concentration +30.6. M phenotype (by isoelectric focusing) PiMS genotype, was not performed. I am a heterozygote, "carrier" 0 for an X1-antitrypsin allele that usually results in mildly reduced plasma cx1-antitrypsin concentration (PiS).

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