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A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear
Meriç Kaymak Cihan1, Fatih Bolat, Hüseyin Onay
1Departments of *Pediatrics, Division of Hematology and Oncology †Pediatrics, Division of Neonatology §Pediatrics, Faculty of Medicine, Cumhuriyet University, Sivas ‡Department of Medical Genetics, Faculty of Medicine, Ege University, İzmir, Turkey.
Abstract:
Severe congenital neutropenia type 4 is a disorder of the hematopoietic system associated with mutations in the glucose-6-phosphatase catabolic 3 (G6PC3) gene. This disorder is characterized by neutropenia, congenital heart defects, urogenital malformations, and prominent superficial veins. To our knowledge, although intermittent thrombocytopenia is observed in this mutation, the coexistence of large thrombocytes is rarely seen. Here we present a case of severe congenital neutropenia type 4 with G6PC3 mutation and large platelets in the peripheral smear.
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