Autosomal recessive diseases

• cystic fibrosis ~1/2000

  • recurrent lung infections, infertility in males

• phenylketonurea (PKU) 1/2,000-5,000 in Europeans

  • mental retardation

• b-thalassemia 1/20,000 in general population; 1/100 in areas where malaria is endemic

  • severe anemia (depletion of rbc)

• Tay-Sachs disease 1/3000 in Ashkenazi Jews

  • neurological degeneration, blindness, paralysis

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