What is the pattern of inheritance for hereditary hemochromatosis (HHC), Wilson disease, and alkaptonuria (ochronosis)?
These three conditions are inherited as autosomal recessive traits and heterozygotes are asymptomatic carriers. HHC occurs in 1 in 500 individuals (Northern European ancestry), Wilson disease in approximately 1 in 30,000, and alkaptonuria (ochronosis) in approximately 1 in 250,000. Alkaptonuria was the first human disease for which inheritance as an autosomal recessive trait was demonstrated.
