From diagnosis in infancy to family care: A clinical case of severe hemophilia a leading to identification and referral of multiple carriers

Abstract

Despite advances in hemophilia care, support for female carriers remains inadequate. Approximately 28% of carriers have coagulation factor activity <40%, meeting hemophilia diagnostic criteria; however, many remain unaware of their bleeding risk. Here, we report the case of a 7-month-old boy with severe hemophilia A, prompting identification and referral of four symptomatic female relatives for specialized carrier care. Initial family history revealed no bleeding disorders; however, structured questioning using the ISTH/SSC Bleeding Assessment Tool, with specific examples, such as iron deficiency anemia, bruising, heavy menstruation, and postpartum bleeding, revealed symptomatic carriers. A maternal aunt, previously treated for idiopathic anemia, improved after tranexamic acid treatment for menorrhagia. This case highlights that structured family history and explicit questioning can reveal symptomatic carriers. For carriers, integrating appropriate care into pediatric hemophilia improves quality of life and ensures timely referral and management.