Alpha 1 Antirypsin deficiency is a genetic and when the carrier has it and get sick often a cause to bad lung, asthma, COPD, and similar, and even kidney, lung and similar problems.
All people with lung problems should be screen.
How frequent? With all the genetic information around, we are often wondering how much genetic morbidity is really hidden in our genomes. Yes, everybody is a knock-out for 1-3 genes, but in most cases, these variants do not cause disease. However, what happens if you apply genomics to estimate the burden of known disease variants? Now in a recent paper in Genetics in Medicine by Lazarin and colleagues, the carrier frequency for ~400 variants known to cause ~100 recessive disorders is investigated. 24% of all individuals are carriers for at least one recessive disorder.
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