Yazarlar : Gouw SC, van den Berg HM, Oldenburg J, Astermark J, de Groot PG, Margaglione M, Thompson AR, van Heerde W, Boekhorst J, Miller CM, le Cessie S, van der Bom JG.

Yayın : Blood.

Yayın Yılı : 2012

Pubmed Linki : http://www.ncbi.nlm.nih.gov/pubmed/22282501

Konu : Hemofili

Literatür İçeriği :  

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 secondary outcome was high titer inhibitor development. A systematic 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 (OR) 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 (CI) 2.3-5.7 and 1.4, CI 1.1-1.8), the risk in intron 1 inversions and splice site mutations was equal (pooled OR 0.9, CI 0.6-1.5 and 1.0, CI 0.6-1.5) and the risk in small deletions/insertions and missense mutations was lower (pooled OR 0.5 (CI 0.4-0.6) and 0.3, CI 0.2-0.4). The relative risks for developing high titer inhibitors were similar.

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