Seven Cases of Severe Neutropenia: A Single-center Experience

Abstract

Objective: Severe congenital neutropenia is a rarely encountered heterogeneous group of disorders characterized by myeloid maturation arrest in the bone marrow. The present study aimed to discuss clinical and laboratory findings, genetic mutations, therapeutic approaches and outcomes in these rarely seen seven cases followed up with the diagnosis of Kostmann syndrome in a single center so as to make a contribution to the literature. Method: In this retrospective study, data of the seven cases followed up with the diagnosis of Kostmann syndrome were retrieved from the patient files. The diagnosis was established based on an absolute neutrophil count of <500/mm³ persisting for more than 3 months and presence of HAX-1 gene mutations detected by positive molecular genetic analysis. Results: All patients were born to consanguineous parents. Six of the seven cases had sibling history. All cases had homozygous HAX-1 mutation. Case 1 had motor-mental retardation and case 5 had urogenital system anomaly. Mortality or malignancy was not encountered in any of the cases despite the absence of prophylactic granulocyte-colony stimulating factor (G-CSF) therapy. Conclusion: The diagnosis and differential diagnosis of congenital neutropenia must be considered in the patients presenting with neutropenia and recurrent infections. Monitoring of the cases with severe neutropenia like Kostmann syndrome carries extreme importance. Families should be educated in terms of early signs of infection and importance of regular patient monitoring for prophylactic G-CSF-free management of the disease.

Keywords

• congenital neutropenia
• hax-1
• g-csf therapy
• mortality