paperKB
coga / coga-kb
Help
Sign in

Chunk #29 — Penetrance in Mendelian disease

Source
Integrating electronic health record genotype and phenotype datasets to transform patient care.
Embedded
yes

Text

the compound heterozygotes and as in previous reports men were more likely to carry the diagnosis than women: 24.4% of homozygous men and 14.0% of homozygous women carried the diagnosis. However, the prevalence of liver disease and diabetes were both higher than the prevalence of the diagnosis of hemochromatosis and at one site, 17% of homozygotes were receiving iron (generally contraindicated in this iron overload disease) and none had a diagnosis of hereditary hemochromatosis. These data suggest that in individuals with existing genotype data, opportunistic screening is relatively common at risk genotypes should be undertaken to identify individuals at risk for the disease.