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Article

Whole F8 gene sequencing identified pathogenic structural variants in the remaining unsolved patients with severe hemophilia A.

Journal of thrombosis and haemostasis : JTH - 1 Jun 2024

Jourdy Yohann, Chatron Nicolas, Frétigny Mathilde, Zawadzki Christophe, Lienhart Anne, Stieltjes Natalie, Rohrlich Pierre-Simon, Thauvin-Robinet Christel, Volot Fabienne, Hamida Yasmine Ferhat, Hariti Ghania, Leuci Alexandre, Dargaud Yesim, Sanlaville Damien, Vinciguerra Christine

Abstract excerpt

BACKGROUND: No F8 genetic abnormality is detected in approximately 1% to 2% of patients with severe hemophilia A (HA) using conventional genetic approaches. In these patients, deep intronic variation or F8 disrupting genomic rearrangement could be causal. OBJECTIVES: The study aimed to identify the causal variation in families with a history of severe HA for whom genetic investigations failed. METHODS: We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38484912
DOI: 10.1016/j.jtha.2024.03.002

Genes

F8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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