The Importance of Newborn Screening for Spinal Muscular Atrophy (SMA) in Iran: A Public Health Necessity

Background: Spinal Muscular Atrophy (SMA) is a severe autosomal recessive neuromuscular disorder and a leading genetic cause of infant mortality. Early diagnosis is critical, as timely treatment significantly improves clinical outcomes. While many countries have integrated SMA into their national newborn screening (NBS) programs, Iran has yet to implement widespread screening despite evidence of a high SMA carrier frequency in the population. Objective: To emphasize the need for implementing nationwide newborn screening for SMA in Iran, considering the disease burden and the elevated carrier frequency reported in recent genetic studies. Significance: Iran's relatively high rate of consanguineous marriages increases the risk of autosomal recessive disorders such as SMA. Several studies have reported SMA carrier frequencies in Iran comparable to or even higher than global averages. Incorporating SMA screening into the NBS program would enable early identification of affected newborns, allowing access to life-saving treatments during the critical therapeutic window. Moreover, it would enhance reproductive counseling and preventive strategies. Conclusion: Given the high carrier frequency and the proven benefits of early intervention, implementing SMA newborn screening in Iran should be considered a national public health priority.

کلیدواژه ها:

Spinal Muscular Atrophy (SMA) ، Newborn Screening (NBS) ، Carrier Frequency