From: Next-generation community genetics for low- and middle-income countries
Disease | Inheritance | OMIM no. | Highest incidence |
---|---|---|---|
Beta-thalassemia | AR | 613985 | 1:5, Maldives [45] |
Cystic fibrosis | AR | 219700 | 1:2,500, Ireland [46] |
Phenylketonuria | AR | 261600 | 1:2,600, Turkey [47] |
Sickle cell disease | AR | 603903 | 1:5, Baamba, Uganda [48] |
Spinal muscular atrophy | AR | 253300 | 1:5,600, Slovakia [49] |
Duchenne muscular dystrophy | X-linked | 310200 | 1:3,500, USA [50] |
Fragile × syndrome | X-linked | 300624 | 1:3,300 (full mutation, male and female), USA [51] |
G6PD deficiency | X-linked | 305900 | 1:8, Basra, Iraq [52] |
Hemophilia A | X-linked | 306700 | 1:5,000, worldwide [53] |
Tay-Sachs disease | X-linked | 272800 | 1:3,000 (previously, Ashkenazi Jews) [13] |