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Article

Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2006

Franchini M, Girelli D, Olivieri O, Castaman G, Lippi G, Poli G, Salvagno G L, Tagariello G, Giuffrida A, de Gironcoli M, Morfini M, Berntorp E, Gandini G

Abstract excerpt

We report the case of a patient with mild haemophilia A, due to a Tyr2105Cys mutation in exon 22 of the C1 domain, who developed a high-titre factor VIII inhibitor (maximum titre 1600 BU) with recurrent severe haemorrhages and fatal intracranial bleeding. Based on published data, it appears that...

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Identifiers

PMID: 16834751
DOI: 10.1111/j.1365-2516.2006.01297.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16834751-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A.PMID 16834751Read ↗

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