PB1260 - First report of a Mexican family with F8 c.1443G>A mutation causing mild hemophilia

Background: The gene responsible for the synthesis of FVIII is located on the long arm of the X chromosome (Xq28), it is composed of 26 exons and codes for a protein of 2,332 amino acids; Mutations in this gene usually appear de novo, the most common mutations are: inversion of Intron 22, being the main cause of severe HA and we also find point mutations and “missense” mutations which are responsible for the majority of cases of HA mild-moderate.

Aims: Report a genetic mutation causing mild hemophilia in a mexican family.

Methods: Genetic sequencing was performed among three siblings with mild hemophilia A (two men and one woman).
7,056 nucleotides of the coding region of the F8 gene were sequenced with DNA Next Generation Sequencing with a depth greater than 20X. In total, an average depth of 40.06X and a 104X maximum depth finding the next variant: Mutation in 1443 G>A

Results: This mutation caused them to phenotypically express Mild Hemophilia A, with different basal FVIII concentrations, causing each one to have a different clinical presentation.

Conclusion(s): This mutation was reported in India and Malaysia in a patient with mild hemophilia A. Finding this variant in the Mexican population reinforces the Indo-Asian origin of our population