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Peer-reviewedCC BY-NC 4.0Women's Health

Diagnostic challenges and frontiers for women and girls with hemophilia / hemophilia carriers: A narrative review

  • Harish Eswaran1,2
  • Miguel Escobar1,2
  • Lakshmi Srivaths1,3
  1. 1Gulf States Hemophilia and Thrombophilia Center, Houston, TX, USA
  2. 2Department of Internal Medicine, McGovern Medical School at UTHealth Houston, Houston, TX, USA
  3. 3Division of Hematology, Department of Pediatrics, McGovern Medical School at UTHealth Houston, Houston, TX, USA
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Abstract

Abnormal bleeding is experienced by many hemophilia carrier females. Since 2021, women and girls with residual factor 8 or 9 clotting activity levels <40 IU/dL are given a diagnosis of hemophilia similar to men and boys. Despite the increased recognition, barriers to diagnosis persist for women and girls with hemophilia. Among these are the limitations of two widely used assays for hemophilia diagnosis—the one stage clotting assay (OSA) and two-stage chromogenic substrate assay (CSA). Discrepant results between these assays may lead to missed diagnosis and incorrect severity classification which result in inadequate treatment and bleeding complications. International guidelines recommend that both assays be performed and repeated for confirmation in hemophilia diagnosis. However, the availability of both assays is not universal due to resource limitations. Methods for laboratory diagnosis of hemophilia, the limitations associated with laboratory diagnosis in women and girls, and potential solutions to these challenges are discussed.

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Cite

BibTeXRIS
BibTeX
@article{eswaran2026diagnostic,
  title = {{Diagnostic challenges and frontiers for women and girls with hemophilia / hemophilia carriers: A narrative review}},
  author = {Harish Eswaran and Miguel Escobar and Lakshmi Srivaths},
  journal = {Women's Health},
  year = {2026},
  month = oct,
  doi = {10.1177/17455057261494386},
  url = {https://doi.org/10.1177/17455057261494386},
  note = {CC BY-NC 4.0},
}
RIS
TY  - JOUR
TI  - Diagnostic challenges and frontiers for women and girls with hemophilia / hemophilia carriers: A narrative review
AU  - Harish Eswaran
AU  - Miguel Escobar
AU  - Lakshmi Srivaths
PY  - 2026
DA  - 2026/10/01
JO  - Women's Health
DO  - 10.1177/17455057261494386
UR  - https://doi.org/10.1177/17455057261494386
AB  - Abnormal bleeding is experienced by many hemophilia carrier females. Since 2021, women and girls with residual factor 8 or 9 clotting activity levels <40 IU/dL are given a diagnosis of hemophilia similar to men and boys. Despite the increased recognition, barriers to diagnosis persist for women and girls with hemophilia. Among these are the limitations of two widely used assays for hemophilia diagnosis—the one stage clotting assay (OSA) and two-stage chromogenic substrate assay (CSA). Discrepant results between these assays may lead to missed diagnosis and incorrect severity classification which result in inadequate treatment and bleeding complications. International guidelines recommend that both assays be performed and repeated for confirmation in hemophilia diagnosis. However, the availability of both assays is not universal due to resource limitations. Methods for laboratory diagnosis of hemophilia, the limitations associated with laboratory diagnosis in women and girls, and potential solutions to these challenges are discussed.
SN  - 1745-5057
SN  - 1745-5065
ER  -