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Genetic Analysis Detects Novel Gene Mutations in Hemophilia A

Key clinical point: A wide variety of genetic mutations were found apart from the routine intron 22 inversion mutation in a cohort of Vietnamese patients with hemophilia A.

Major finding: Two novel F8 mutations were detected that resulted in a severe clinical phenotype.

Study details: A genetic analysis of 103 patients with hemophilia A.

Disclosures: The study was supported by grant funding from the Ministry of Health of Vietnam. The authors reported having no conflicts of interest.


Luu DV et al. Haemophilia. 2019 Mar 26. doi: 10.1111/hae.13738.