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


Cihan M. K. , BOLAT F., ONAY H., SARI A., Korgali E. U. , Aslan S., et al.

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, cilt.38, ss.324-328, 2016 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 38 Konu: 4
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1097/mph.0000000000000504
  • Dergi Adı: JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
  • Sayfa Sayısı: ss.324-328

Özet

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.