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July 16, 2024Journal of Thrombosis and HaemostasisOpen Access

An integrated multitool analysis contributes elements to interpreting unclassified factor IX missense variants associated with hemophilia B

Monica Sacco Maria Francesca Testa Antonietta Ferretti Maria Sole Basso Stefano Lancellotti Maira Tardugno Leonardo Di Gennaro Paola Concolino Angelo Minucci Claudia Spoliti Alessio Branchini Raimondo De Cristofaro

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Abstract

Dissection of genotype-phenotype relationships in hemophilia B (HB) is particularly relevant for challenging (mild HB) or for HB-associated but unclassified factor (F)IX missense variants.

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Sacco et al. (2024) studied this question.

synapsesocial.com/papers/68e60235b6db643587595566 https://doi.org/10.1016/j.jtha.2024.07.008

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Multimodal mechanisms of pathogenic variants in the signal peptide of FIX leading to hemophilia B2024 · 6 citations
2Genetic variant detection in a South African haemophilia B population2024 · 1 citations
3Haemophilia B: database of point mutations and short additions and deletions, fifth edition, 1994Original Research · 1994 · 48 citations
4A Case study of severe hemophilia B due to pathogenic C.676C>T missense mutation in theOriginal Research · 2026
5A de novo int22h‐1/int22h‐2‐flanked Xq28 deletion‐associated preferential X‐inactivation in a female with severe hemophilia B2024

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The Analysis of the FIX‐inhibitor Risks Associated With the <i>F9</i> Genotype in Patients With Haemophilia B Exposes the Involvement of Nonsense Mediated‐decay: Argentinean and International Series2026

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