What is the prevalence of Severe congenital neutropenia?

Severe congenital neutropenia (SCN) is a rare genetic disorder characterized by a significant decrease in the number of neutrophils, a type of white blood cell that plays a crucial role in fighting off infections. The exact prevalence of SCN is not well-established due to its rarity and the lack of comprehensive population-based studies. However, it is estimated to affect approximately 1 in every 200,000 to 1 million individuals worldwide.

SCN is typically diagnosed in infancy or early childhood and can lead to recurrent and severe bacterial infections. The condition is often caused by mutations in specific genes involved in the production and function of neutrophils. Without proper treatment, individuals with SCN are at a higher risk of life-threatening infections.

Early diagnosis and appropriate management are crucial for individuals with SCN to prevent complications and improve their quality of life. Treatment options may include the use of granulocyte colony-stimulating factor (G-CSF) to stimulate neutrophil production, antibiotics to prevent and treat infections, and stem cell transplantation in severe cases.

While SCN is a rare disorder, ongoing research and advancements in genetic testing have improved our understanding of the condition, leading to better management strategies and outcomes for affected individuals.