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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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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DOI: https://doi.org/10.1038/s44161-022-00141-6
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Hemophilia A and factor V deficiency in a girl with Turner syndrome: a case report
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