Your Alpha-1 genotype is FF. This means that you have two copies of the F mutation in your Alpha-1 genes. This is a rare form of alpha-1 antitrypsin deficiency. The F mutation produces a dysfunctional alpha-1 protein product. Although the alpha-1 quantity is normal or near-normal, it does not function normally to protect the lungs. Based on a limited amount of literature, people with the FF genotype are at increased risk for lung disease. This genotype has not been associated with an increased risk for liver disease. More information about genotypes involving the F mutation may be known in the future. We recommend that you follow-up with a physician familiar with Alpha-1 to discuss personalized screening or management recommendations. A list of Alpha-1 specialists can be found at www.alpha1.org.Alpha-1 at MUSC – Genetic Counseling
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. Testing for relatives must evaluate the F mutation to ensure accurate results. alpha-1 antitrypsin level testing is not accurate to detect Alpha-1 involving the F mutation.
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