People with this genotype do not have alpha-1 antitrypsin deficiency but are genetic carriersAn 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 one mutation.
Alpha-1 Alleles – AlphaNet
Because Alpha-1 is a genetic condition, your result means that your relatives are at increased risk to have AATD or carry abnormal alpha-1 genes. We encourage you to make your family members and any reproductive partner aware of the condition in your family and the availability of testing.
F: dysfunctional
What is Your Phenotype and What Does it Mean? – Kimberly Foil, MS, CGC, Genetic Counseling Program, Alpha-1 Foundation; Division of PulmonaryMedical term referring to the lungs. and Critical Care Medicine, Medical University of South Carolina (MUSC)
- Near normal level but doesn’t bind neutrophil elastaseA 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
- AATalpha-1 antitrypsin levels may be normal in Alpha-1 involving the F
- Likely lung risks like a Z
- No liver accumulation