FVIII基因第22外显子中的Tyr2105Cys突变是轻度/中度A型血友病患者产生抑制物的一个风险因素。

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

作者信息

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

机构信息

Servizio di Immunoematologia e Trasfusione-Centro Emofilia, Azienda Ospedaliera di Verona, Verona, Italy.

出版信息

Haemophilia. 2006 Jul;12(4):448-51. doi: 10.1111/j.1365-2516.2006.01297.x.

DOI:10.1111/j.1365-2516.2006.01297.x

PMID:16834751

Abstract

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 although this mutation occurs rarely in patients with mild or moderate haemophilia A, it is frequently associated with the development of high-titre inhibitors.

摘要

我们报告了一例轻度甲型血友病患者的病例，该患者因C1结构域第22外显子中的Tyr2105Cys突变而发病，其出现了高滴度的凝血因子VIII抑制物（最高滴度为1600 BU），伴有反复严重出血和致命性颅内出血。根据已发表的数据，虽然这种突变在轻度或中度甲型血友病患者中很少发生，但它经常与高滴度抑制物的形成有关。