Co-existing mild haemophilia a with mild type 1 von willebrand disease: Case report [Hafif tip von willebrand hastali{dotless}gi{dotless} ile hafif hemofili a birlikteligi]
Küçük Resim Yok
Tarih
2011
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Von Willebrand disease and haemophilia A are the two most common inherited bleeding disorders. Despite the relatively high frequency of those two bleeding disorders in the general population, reports of their coexistence together or of combined coagulopathies in general are rare. We describe a 1-year-old male with confirmed mild haemophilia A co-existing with mild type 1 VWD. The 1- year old male was admitted to our hospital with a history of excessive bleeding following circumcision. Initial laboratory evaluation revealed a prolonged activated partial thromboplastin time (APTT) of 46.2 s (normal range 23.2-34.7), and low FVIII activity level of 5.5% of normal. His subsequent evaluation, was also consistent with mild type 1 VWD with a decreased VWF antigen (VWF:Ag) of 50%, decreased ristocetin cofactor activity (VWF:RCo) of 44%. The DNA testing detected a C2 domain R2304H mutation of the FVIII gene. We believe that the co-existence of VWD and haemophilia A is underappreciated, under-diagnosed, and under-reported.
Açıklama
Anahtar Kelimeler
Haemophilia, Von willebrand disease
Kaynak
UHOD - Uluslararasi Hematoloji-Onkoloji Dergisi
WoS Q Değeri
Scopus Q Değeri
Q4
Cilt
21
Sayı
2
