Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.

doi:10.1111/hae.14503

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Article

Genetic variants at the chromosomal region 2q21.3 underlying inhibitor development in patients with severe haemophilia A.

Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2022

Spena Silvia, Cairo Andrea, Pappalardo Emanuela, Gorski Marcin M, Garagiola Isabella, Hassan Shermarke, Gualtierotti Roberta, Peyvandi Flora

Abstract excerpt

INTRODUCTION: Inhibitor development affects about 30% of patients with severe haemophilia A (HA) and results from different environmental and genetic risk factors. Previously, we identified the missense variant rs3754689 in the LCT gene linked with this predisposition. Since rs3754689 variant is benign and is located in a conserved haplotype region, we hypothesized that the association signal captured by this...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 35182444
DOI: 10.1111/hae.14503
PMCID: PMC9306754

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