Using recombinant DNA to detect disease alleles directly -- An Introduction to Genetic Analysis -- NCBI Bookshelf

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Table 13-1

Some Common Genetic Diseases

Inborn errors of metabolism	Approximate incidence among live births
Cystic fibrosis	1/1600 Caucasians
Duchenne muscular dystrophy	1/3000 boys (X linked)
Gaucher disease (defective glucocerebrosidase)	1/2500 Ashkenazi Jews; 1/75,000 others
Tay-Sachs disease (defective hexosaminidase A)	1/3500 Ashkenazi Jews; 1/35,000 others
Essential pentosuria (a benign condition)	1/2000 Ashkenazi Jews; 1/50,000 others
Classic hemophilia (defective clotting factor VIII)	1/10,000 boys (X linked)
Phenylketonuria (defective phenylalanine hydroxylase)	1/5000 Celtic Irish; 1/15,000 others
Cystinuria (mutated gene unknown)	1/15,000
Metachromatic leukodystrophy (defective arylsulfatase A)	1/40,000
Galactosemia (defective galactose 1-phosphate uridyl transferase)	1/40,000

Hemoglobinopathies	Approximate incidence among live births

Sickle-cell anemia (defective β-globin chain)	1/400 U.S. blacks. In some West African populations, the frequency of heterozygotes is 40%.
β-Thalassemia (defective β-globin chain)	1/400 among some Mediterranean populations

Note: Although a vast majority of more than 500 recognized recessive genetic diseases are extremely rare, in combination they constitute an enormous burden of human suffering. As is consistent with Mendelian mutations, the incidence of some of these diseases is much higher in certain racial groups than in others.