Next-generation community genetics for low- and middle-income countries

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

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]

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

ISSN: 1756-994X