Mucosal Bleeding in a Newborn With Low Factor VIII Activity: An Unusual Combination of Type 2A and Type 2N von Willebrand Disease.

Abstract excerpt

INTRODUCTION: This case report describes a newborn male presenting with mucosal bleeding and low Factor VIII activity, ultimately diagnosed with a rare compound heterozygous form of von Willebrand Disease (VWD) involving both type 2A and type 2N variants through previously unknown pathogenic mutations. METHODS: A single patient case report. RESULTS: Genetic testing revealed two heterozygous variants in the VWF...

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• Factor VIII
• VWF gene
• Hemorrhage
• Heterozygote
• Infant, Newborn