Hemophilia in Women: Beyond the Carrier State - Clinical, Genetic, and Diagnostic Challenges

Background: Hemophilia is a genetic bleeding disorder resulting from a deficiency of specific coagulation factors. The most common forms, hemophilia A and B, are X-linked and mainly affect males, with females usually being asymptomatic carriers. Some females may experience clinically significant bleeding due to reduced clotting factor activity or other genetic or biological aspects. Aim: The aim of this study was to address hemophilia in women, including its clinical manifestations, associated challenges, and the genetic mechanisms underlying symptomatic individuals, such as Turner Syndrome, X-chromosome abnormalities, or a 46, XY karyotype. Materials and methods: A comprehensive literature review was conducted using major databases, including PubMed, Google Scholar, ResearchGate, and ScienceDirect, covering publications from 1975 to March 2026, as well as educational materials and reports from hemophilia-related platforms and organizations. Results: Symptomatic hemophilia in women may be caused by a variety of factors, such as Turner syndrome, mutations on the X chromosome, or a 46, XY karyotype. In most cases, further genetic diagnostics reveal the alterations responsible for this phenotype. Conclusions: Regardless of the phenotypic presentation, in cases of fully symptomatic hemophilia in women, extended diagnostic evaluation for genetic disorders should be considered.