loading page

Population-based Carrier Screening for Spinal Muscular Atrophy in Saudi Arabia
  • +5
  • Mohammed Al Jumah,
  • Saad Al Rajeh,
  • Wafaa Eyaid,
  • Ahmed Al-Jedai,
  • Hajar Al Mudaiheem,
  • Ali Al Shaheri,
  • Mohammed Hussein,
  • Ibrahim Al Abdulkareem
Mohammed Al Jumah
King Abdullah International Medical Research Center

Corresponding Author:[email protected]

Author Profile
Saad Al Rajeh
King Saud University Medical City
Author Profile
Wafaa Eyaid
King Abdulaziz Medical City Department of Pediatrics
Author Profile
Ahmed Al-Jedai
Saudi Arabia Ministry of Health
Author Profile
Hajar Al Mudaiheem
King Abdullah International Medical Research Center
Author Profile
Ali Al Shaheri
King Faisal Specialist Hospital and Research Centre - Jeddah
Author Profile
Mohammed Hussein
King Fahad Hospital
Author Profile
Ibrahim Al Abdulkareem
Saudi Data and AI Authority National Center for AI Riyadh Saudi Arabia
Author Profile


Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in children from heritable diseases. It is reported that the incidence of SMA is higher in the Saudi population. 4198 healthy volunteers between 18 to 25 years old were included in this study of which (54.7% males vs 45.3% females). Whole blood was spotted from finger pricks onto IsoCode StixTM and genomic DNA was isolated using one triangle from the machine. Carrier frequency and population-level data were used to estimate the prevalence of SMA in the population utilizing the life table method. Results showed the presence of one copy of the SMN1 gene in 108 samples, two copies in 4090 samples, and a carrier frequency of 2.6%. Carrier figurine was twofold in females and 27% of participants were children of first-cousin marriages. The birth incidence of SMA was estimated to be 32 per 100,000 birth and the total number of people living with SMA in KSA to be 2,265 of which 188 are type I, 1,213 are type II, and 864 are type III. The SMA carrier rate of 2.6 % in Saudi subjects is slightly higher than the reported global frequency with links to the consanguineous marriages.