Table 1.
An overview of the main genetic and chromosomal disorder in Saudi Arabia and their relationship with consanguinity. (++): High correlation; (+): Positive correlation; ND: Not Determined.
| Type | Disease | Disease prevalence* (%) | Consanguinity | References |
|---|---|---|---|---|
| Chromosomal | Down syndrome | 1.8 | ND | [172] |
| Congenital Malformations or birth defects | 2- 3 | ++ | [12,13,173] | |
| Polygenic and/or multifactorial | Congenital heart disease (CHD) | 5.4-10.7 | + | [15,174,175] |
| Cystic fibrosis | 0.24 | ++ | [176] | |
| Duchene muscular dystrophy (DMD) | 0.025 | + | [177] | |
| Hereditary Recessive deafness | 130 | ++ | [178-180] | |
| Hereditary blindness & visual impairment | 90 | ++ | [181,182] | |
| Diabetes mellitus | 110 to 237 | ND | [183,184] | |
| Thalassemia | 0.5 to 2.6 | ++ | [185-188] | |
| Monogenic | Sickle Cell Disease (SCD) | 9 to 14.5 | ++ | [185,187,189-192] |
| G6PD deficiency | 7.7 to 20 | ++ | [12,193,194] | |
*Rates from national and/or regional studies done in Saudi Arabia