A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear

作者：Cihan Meric Kaymak^*; Bolat Fatih; Onay Huseyin; Sari Ahmet; Korgali Elif Unver; Aslan Sukran; Cura Ceylan; Icagasioglu Dilara

来源：Journal of Pediatric Hematology/Oncology, 2016, 38(4): 324-328.

DOI：10.1097/mph.0000000000000504

• severe congenital neutropenia type 4
• G6PC3 mutation
• large platelets

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.

• 出版日期2016-5