Area of Science:

• Hematology
• Genetics
• Pediatrics

Background:

• Hereditary neutropenia is a rare group of disorders.
• Genetic factors are increasingly identified, with 30 genes now linked to 60% of congenital neutropenia.
• Accurate diagnosis is crucial for effective management.

Approach:

• This narrative literature review synthesizes recent findings on acquired and congenital chronic neutropenia.
• It emphasizes the importance of clinical and cytological evaluation in diagnosis.
• A decision tree is proposed to guide etiological investigations.

Key Points:

• Clinical examination and bone marrow analysis are essential for identifying syndromic forms and guiding genetic research.
• While 30 genes are known, genotype-phenotype correlations remain challenging.