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People with the MF genotype are genetic carriers of the F mutation. The F mutation produces a dysfunctional alpha-1 protein product, and contributes to AATD in people who have two mutations (e.g. FF, FZ). The M allele is normal. Based on a limited amount of literature, people with the MF genotype likely have lung disease risks similar to people with the MZ genotype. The MZ genotype is not associated with an increased risk for lung disease in nonsmokers. Higher risk is seen in MZ individuals who smoke. The MF genotype is not associated with an increased risk for liver disease.

Because Alpha-1 is genetic, your relatives are at increased risk to also have the F mutation. We encourage you to make your family members aware of your result and the availability of testing. In order for your relatives to have accurate testing, the test must look for the F mutation. AAT level testing is not accurate to detect Alpha-1 involving the F mutation. Reproductive partners of people with abnormal alpha-1 genes should be offered testing to assess risk to children.

Alpha-1 at MUSC – Genetic Counseling

F: dysfunctional

  • Near normal level but doesn’t bind neutrophil elastase well
  • AAT levels may be normal in Alpha-1 involving the F
  • Likely lung risks like a Z
  • No liver accumulation
What is Your Phenotype and What Does it Mean?Kimberly Foil, MS, CGC, Genetic Counseling Program, Alpha-1 Foundation; Division of Pulmonary and Critical Care Medicine, Medical University of South Carolina (MUSC)