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Whole F8 gene sequencing combined with splicing functional analyses led to a substantial increase of the molecular diagnosis yield for non-severe haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Sept 2023

Dericquebourg Amy, Fretigny Mathilde, Leuci Alexandre, Zawadzki Christophe, Huguenin Yoann, Castet Sabine-Marie, Dargaud Yesim, Vinciguerra Christine, Jourdy Yohann

Abstract excerpt

INTRODUCTION: Conventional genetic investigation fails to identify the F8 causal variant in 2.5%-10% of haemophilia A (HA) patients with non-severe phenotypes. In these cases, F8 deep intronic variants could be causal. AIM: To identify pathogenic F8 deep intronic variants in genetically unresolved families with non-severe HA analysed in the haematology laboratory of the Hospices Civils de Lyon. METHODS: The whole...

Topics

Humans
Male
Hemophilia A
Factor VIII
RNA Splicing
Mutation
Phenotype

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37410802
DOI: 10.1111/hae.14824

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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