Molecular study of a large cohort of 109 haemophilia patients from Cuba using a gene panel with next generation sequencing-based technology.

Nina BorràsDunia Castillo-GonzálezNatalia ComesLaura Martin-FernandezRené Antonio Rivero-JiménezArturo Chang-MonteagudoVera Ruiz-MoleónHeidys Garrote-SantanaFrancisco VidalConsuelo Macías-Abraham

Published in: Haemophilia : the official journal of the World Federation of Hemophilia (2021)

This is the first description of the molecular epidemiology of HA and HB in Cuba. Variants identified in index cases will be of value for local implementation of familial studies and prenatal diagnosis using the molecular approaches available in Cuba. The results of this protocolled genetic study improved the accuracy of the clinical diagnosis and will facilitate management of these patients.

Keyphrases

end stage renal disease
ejection fraction
chronic kidney disease
newly diagnosed
copy number
healthcare
peritoneal dialysis
early onset
patient reported outcomes
dna methylation
circulating tumor cells