A genetic mutation in the SERPINA1 gene causes alpha-1 antitrypsin deficiency. This increases a person’s susceptibility to COPD (chronic obstructive pulmonary disease) and, in some cases, cirrhosis of the liver. Knowing that you carry this mutation can be a great incentive to avoid smoking and to be kind to your liver.
Familial Mediterranean fever (FMF) is a genetic condition of inflammatory episodes that cause painful joints, pain in the abdomen, or pain in the chest. It is most often accompanied by a fever. FMF is often misdiagnosed as various pain-related conditions such as fibromyalgia, myofascial pain syndrome, or gouty arthritis.
The term “carrier status” when applied to a genetic disease usually means looking at whether or not you are heterozygous (have one copy) for a mutation that causes a Mendelian genetic disease. While genetic information from 23andMe or a similar DNA test is generally accurate, always re-confirm with a clinical test before making a major health decision. Your results on these variants could be a false positive or a false negative. (Member’s article)