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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

Franchini, M ; Girelli, D ; Olivieri, O ; Castaman, G ; Lippi, G ; Poli, G ; Salvagno, GL ; Tagariello, G ; Giuffrida, A and De Gironcoli, M , et al. (2006) In Haemophilia 12(4). p.448-451
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.
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organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
mild haemophilia A, bleeding, inhibitors
in
Haemophilia
volume
12
issue
4
pages
448 - 451
publisher
Federation of European Neuroscience Societies and Blackwell Publishing Ltd
external identifiers
  • wos:000238486400021
  • scopus:33846669469
ISSN
1351-8216
DOI
10.1111/j.1365-2516.2006.01297.x
language
English
LU publication?
yes
id
a0398b42-66c7-496e-a8da-12480abf908d (old id 686519)
date added to LUP
2016-04-01 11:58:16
date last changed
2020-01-12 08:57:55
@article{a0398b42-66c7-496e-a8da-12480abf908d,
  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.},
  author       = {Franchini, M and Girelli, D and Olivieri, O and Castaman, G and Lippi, G and Poli, G and Salvagno, GL and Tagariello, G and Giuffrida, A and De Gironcoli, M and Morfini, M and Berntorp, Erik and Gandini, G},
  issn         = {1351-8216},
  language     = {eng},
  number       = {4},
  pages        = {448--451},
  publisher    = {Federation of European Neuroscience Societies and Blackwell Publishing Ltd},
  series       = {Haemophilia},
  title        = {Tyr2105Cys mutation in exon 22 of FVIII gene is a risk factor for the development of inhibitors in patients with mild/moderate haemophilia A},
  url          = {http://dx.doi.org/10.1111/j.1365-2516.2006.01297.x},
  doi          = {10.1111/j.1365-2516.2006.01297.x},
  volume       = {12},
  year         = {2006},
}