2. The Role of Genetics in Congenital Neutropenia
Congenital neutropenia is a rare genetic condition. It’s often diagnosed in infancy or early childhood. Genetic mutations, like those in the ELANE gene, are responsible for most cases. These mutations disrupt neutrophil production or function.
Diagnosing congenital neutropenia involves genetic testing and complete blood counts. Identifying the specific mutation helps in understanding the condition’s severity and potential complications. Family history plays a significant role in the diagnostic process.
Treatment often involves G-CSF injections to boost neutrophil production. Bone marrow transplants may be considered in severe cases. Ongoing monitoring is crucial for managing the condition and preventing infections.
Early detection and treatment are vital. They significantly improve quality of life and survival rates. Parents with a history of congenital neutropenia should seek genetic counseling when planning a family. (2)
