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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.

From: Individualized medicine enabled by genomics in Saudi Arabia

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 ++ [178180]
  Hereditary blindness & visual impairment 90 ++ [181, 182]
  Diabetes mellitus 110 to 237 ND [183, 184]
  Thalassemia 0.5 to 2.6 ++ [185188]
Monogenic Sickle Cell Disease (SCD) 9 to 14.5 ++ [185, 187, 189192]
  G6PD deficiency 7.7 to 20 ++ [12, 193, 194]
  1. *Rates from national and/or regional studies done in Saudi Arabia