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F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis

Gouw, Samantha C.; van den Berg, H. Marijke; Oldenburg, Johannes; Astermark, Jan LU ; de Groot, Philip G.; Margaglione, Maurizio; Thompson, Arthur R.; van Heerde, Waander; Boekhorst, Jorien and Miller, Connie H., et al. (2012) In Blood 119(12). p.2922-2934
Abstract
This systematic review was designed to provide more precise effect estimates of inhibitor development for the various types of F8 gene mutations in patients with severe hemophilia A. The primary outcome was inhibitor development and the secondary outcome was high-titer-inhibitor development. Asystematic literature search was performed to include cohort studies published in peer-reviewed journals with data on inhibitor incidences in the various F8 gene mutation types and a mutation detection rate of at least 80%. Pooled odds ratios (ORs) of inhibitor development for different types of F8 gene mutations were calculated with intron 22 inversion as the reference. Data were included from 30 studies on 5383 patients, including 1029 inhibitor... (More)
This systematic review was designed to provide more precise effect estimates of inhibitor development for the various types of F8 gene mutations in patients with severe hemophilia A. The primary outcome was inhibitor development and the secondary outcome was high-titer-inhibitor development. Asystematic literature search was performed to include cohort studies published in peer-reviewed journals with data on inhibitor incidences in the various F8 gene mutation types and a mutation detection rate of at least 80%. Pooled odds ratios (ORs) of inhibitor development for different types of F8 gene mutations were calculated with intron 22 inversion as the reference. Data were included from 30 studies on 5383 patients, including 1029 inhibitor patients. The inhibitor risk in large deletions and nonsense mutations was higher than in intron 22 inversions (pooled OR = 3.6, 95% confidence interval [95% CI], 2.3-5.7 and OR = 1.4, 95% CI, 1.1-1.8, respectively), the risk in intron 1 inversions and splice-site mutations was equal (pooled OR = 0.9; 95% CI, 0.6-1.5 and OR = 1.0; 95% CI, 0.6-1.5), and the risk in small deletions/insertions and missense mutations was lower (pooled OR = 0.5; 95% CI, 0.4-0.6 and OR = 0.3; 95% CI, 0.2-0.4, respectively). The relative risks for developing high titer inhibitors were similar. (Blood. 2012;119(12):2922-2934) (Less)
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Blood
volume
119
issue
12
pages
2922 - 2934
publisher
American Society of Hematology
external identifiers
  • wos:000302121700030
  • scopus:84863419863
ISSN
1528-0020
DOI
10.1182/blood-2011-09-379453
language
English
LU publication?
yes
id
3a98e5f3-947a-4da0-b6ef-461e2fbdb65f (old id 2591105)
date added to LUP
2012-06-01 09:39:50
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2017-11-12 03:12:30
@article{3a98e5f3-947a-4da0-b6ef-461e2fbdb65f,
  abstract     = {This systematic review was designed to provide more precise effect estimates of inhibitor development for the various types of F8 gene mutations in patients with severe hemophilia A. The primary outcome was inhibitor development and the secondary outcome was high-titer-inhibitor development. Asystematic literature search was performed to include cohort studies published in peer-reviewed journals with data on inhibitor incidences in the various F8 gene mutation types and a mutation detection rate of at least 80%. Pooled odds ratios (ORs) of inhibitor development for different types of F8 gene mutations were calculated with intron 22 inversion as the reference. Data were included from 30 studies on 5383 patients, including 1029 inhibitor patients. The inhibitor risk in large deletions and nonsense mutations was higher than in intron 22 inversions (pooled OR = 3.6, 95% confidence interval [95% CI], 2.3-5.7 and OR = 1.4, 95% CI, 1.1-1.8, respectively), the risk in intron 1 inversions and splice-site mutations was equal (pooled OR = 0.9; 95% CI, 0.6-1.5 and OR = 1.0; 95% CI, 0.6-1.5), and the risk in small deletions/insertions and missense mutations was lower (pooled OR = 0.5; 95% CI, 0.4-0.6 and OR = 0.3; 95% CI, 0.2-0.4, respectively). The relative risks for developing high titer inhibitors were similar. (Blood. 2012;119(12):2922-2934)},
  author       = {Gouw, Samantha C. and van den Berg, H. Marijke and Oldenburg, Johannes and Astermark, Jan and de Groot, Philip G. and Margaglione, Maurizio and Thompson, Arthur R. and van Heerde, Waander and Boekhorst, Jorien and Miller, Connie H. and le Cessie, Saskia and van der Bom, Johanna G.},
  issn         = {1528-0020},
  language     = {eng},
  number       = {12},
  pages        = {2922--2934},
  publisher    = {American Society of Hematology},
  series       = {Blood},
  title        = {F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis},
  url          = {http://dx.doi.org/10.1182/blood-2011-09-379453},
  volume       = {119},
  year         = {2012},
}