A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear
Articles > Article · 2016
Authors: Meriç Kaymak Cihan, Fatih Bolat, Hüseyin Onay, Ahmet Sari, Elif Ünver Korğali, Şükran Aslan, Ceylan Cura, Dilara İçağasioğlu
Journal of Pediatric Hematology/Oncology, International, WoS, 2016, vol 38, pp 324-328
DOI: 10.1097/mph.0000000000000504
Summary
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.