Glanzmann Thrombasthenia in a Newborn with Heterozygous Factor V Leiden and Heterozygous MTHFR C677T Gene Mutations
Küçük Resim Yok
Tarih
2019
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Springer India
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
IntroductionGlanzmann thrombasthenia is a rare congenital platelet dysfunction.Case characteristicsA 2-day-old male neonate delivered at 35 weeks' gestation was referred with extensive bruising and jaundice. His elder sibling had Glanzmann thrombasthenia, and his mother had thrombophilic risk factors. Flow cytometric analysis revealed absent CD41/ CD61. A molecular thrombophilia panel revealed the presence of heterozygous factor V Leiden G1691A and methylenetetrahydrofolate reductase C677T gene mutations.OutcomeGeneral precautions to avoid injuries and spontaneous bleeding were advised.MessageLife-threatening bleeding may not be the first finding in cases of thrombasthenia accompanied by thrombophilic risk factors.
Açıklama
Anahtar Kelimeler
Bleeding, Jaundice, Neonate, Thrombocytopenia
Kaynak
Indian Pediatrics
WoS Q Değeri
Q4
Scopus Q Değeri
Q2
Cilt
56
Sayı
2
