Hemophilia’s Overlooked Female Face

TL;DR

Hemophilia in women is often overlooked, leading to underdiagnosis and inadequate treatment despite their potential for severe symptoms.

Contribution

The paper highlights the need for reevaluating management practices and including females in hemophilia research and care.

Findings

Female carriers can experience bleeding severity similar to hemophilic males.

Gynecological and obstetric bleeds complicate the diagnosis and management in females.

Females are underrepresented in clinical trials and lack proper healthcare infrastructure.

Abstract

Hemophilia is no longer regarded solely as a male disorder; female carriers are increasingly attracting the attention of the scientific community due to the common, albeit overlooked, bleeding tendency associated with their condition. Moreover, women can, in rare cases, experience disease severity comparable to that of hemophilic males. The overall bleeding phenotype in females is complicated by gynecological and obstetric bleedings, which do not always correlate directly to their factor levels. As a patient population, they remain significantly underdiagnosed and inadequately treated due to a range of contributing factors. In genetic terms, a carrier exhibits no clinical or laboratory pathology. In that context, the term “hemophilia carrier” has historically led to the presumption of normal hemostasis, thereby impeding the provision of appropriate healthcare services to females in need. Females are not represented in clinical trials and even hemophilia centers lack sufficient experience and appropriate infrastructure to effectively manage and monitor females with hemophilia. Emerging data regarding the needs of this population should be enriched by larger studies, and previously established management practices should be reevaluated, potentially incorporating newer therapeutic options.