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Current challenges in hemophilia genetics and how they can be overcome

Nature Cardiovascular Research volume 1, pages 867–868 (2022)Cite this article

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Genomic sequencing in hemophilia is a high-yield test and clinically useful for diagnosis, assessing the risk of developing neutralizing antibodies (‘inhibitors’) against the affected coagulation factor, pregnancy and neonatal management, and family counseling. New genomic technologies can detect several types of DNA change with high sensitivity. Systematic collection of genotype–phenotype data is important to better understand the genetics of hemophilia.

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Authors and Affiliations

  1. Department of Medicine, University of Washington, Seattle, WA, USA

    Jill M. Johnsen

  2. Institute for Stem Cell & Regenerative Medicine, University of Washington, Seattle, WA, USA

    Jill M. Johnsen

  3. Center for Cardiovascular Biology, University of Washington, Seattle, WA, USA

    Jill M. Johnsen

  4. Washington Center for Bleeding Disorders, Seattle, WA, USA

    Jill M. Johnsen

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  1. Jill M. Johnsen
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Correspondence to Jill M. Johnsen.

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Johnsen, J.M. Current challenges in hemophilia genetics and how they can be overcome. Nat Cardiovasc Res 1, 867–868 (2022). https://doi.org/10.1038/s44161-022-00141-6

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