How is Severe congenital neutropenia diagnosed?

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. Diagnosing SCN involves a comprehensive evaluation of the patient's medical history, physical examination, and laboratory tests.

Medical history: The doctor will inquire about the patient's symptoms, family history, and any previous infections or hospitalizations. This information helps identify patterns and potential risk factors associated with SCN.

Physical examination: The doctor will perform a thorough physical examination to assess the patient's overall health and look for any physical signs of SCN, such as recurrent infections, oral ulcers, or skin abscesses.

Laboratory tests: Several laboratory tests are essential for diagnosing SCN:

• Complete blood count (CBC): This test measures the number of different types of blood cells, including neutrophils. In SCN, the neutrophil count is significantly low.


• Peripheral blood smear: A blood sample is examined under a microscope to assess the appearance and morphology of blood cells. SCN may show abnormal neutrophil morphology.


• Bone marrow aspiration and biopsy: A small sample of bone marrow is taken to evaluate the production and maturation of blood cells. In SCN, the bone marrow may show a reduced number of neutrophil precursors.


• Genetic testing: This is a crucial step in diagnosing SCN. Genetic tests can identify specific mutations in genes associated with SCN, such as ELANE, HAX1, or G6PC3. These tests help confirm the diagnosis and determine the inheritance pattern.

Additional tests: Depending on the patient's symptoms and clinical presentation, additional tests may be performed to rule out other conditions or assess organ function.

It is important to consult with a healthcare professional for an accurate diagnosis and appropriate management of severe congenital neutropenia.