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Table 1 Ten prevalent Mendelian disorders and regions with highest birth prevalence

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]
  1. AR, autosomal recessive; G6PD, G6PD, glucose-6-phosphate dehydrogenase; OMIM, Online Mendelian Inheritance in Man [54].