People with the MF genotype are genetic An Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. 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.Alpha-1 at MUSC – Genetic Counseling
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. alpha-1 antitrypsin 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.
What is Your Phenotype and What Does it Mean? – Kimberly Foil, MS, CGC, Genetic Counseling Program, Alpha-1 Foundation; Division of Medical term referring to the lungs. and Critical Care Medicine, Medical University of South Carolina (MUSC)
- Near normal level but doesn’t bind A powerful enzyme released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin. Source: Genetics Home Reference. well
- alpha-1 antitrypsin levels may be normal in Alpha-1 involving the F
- Likely lung risks like a Z
- No liver accumulation