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Mohammed Al Jumah
Mohammed Al Jumah

Public Documents 1
Population-based Carrier Screening for Spinal Muscular Atrophy in Saudi Arabia
Mohammed Al Jumah
Saad Al Rajeh

Mohammed Al Jumah

and 7 more

December 27, 2021
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.

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