A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear
Tarih
2016Yazar
Cihan, Meric KaymakBolat, Fatih
Onay, Huseyin
Sari, Ahmet
Korgali, Elif Unver
Aslan, Sukran
Cura, Ceylan
Icagasioglu, Dilara
Üst veri
Tüm öğe kaydını gösterÖzet
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.
Kaynak
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGYCilt
38Sayı
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