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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.

Citation:

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