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Variation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A

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posted on 2019-04-15, 15:10 authored by L Zuccherato, S Eloi-Santos, L Jardim, R Camelo, D Chaves, R Souza, E Hollox, S Rezende
Hemophilia A is an X-linked bleeding disorder due to mutations in the factor VIII gene (F8). The most clinically relevant complication of hemophilia A is the development of neutralizing alloantibodies (inhibitors) against factor VIII1 , occurring in up to 30% of severe patients. Inhibitors impair hemostasis during FVIII replacement, leading to hemorrhages difficult to control, disability and decreased quality of life. The use of bypassing agents is required in most cases to treat or prevent bleeding, representing a more expensive and less effective alternative hemostatic therapy than exogenous FVIII.

Funding

Financial support: Fundo Nacional de Saúde (Ministry of Health, Grant number 25000.155761/2015-13), CAPES (Grant number 88881.068041/2014-01), CNPq (Grant number 456080/2014-7). LWZ and LLJ received fellowship from CAPES, DGC received a BIPDT fellowship from FAPEMIG.

History

Citation

Haematologica, 2019, 10.3324/haematol.2019.220608

Author affiliation

/Organisation/COLLEGE OF LIFE SCIENCES/Biological Sciences/Genetics and Genome Biology

Version

  • AM (Accepted Manuscript)

Published in

Haematologica

Publisher

Ferrata Storti Foundation with European Hematology Association

issn

0390-6078

Acceptance date

2019-03-11

Copyright date

2019

Available date

2019-04-15

Publisher version

http://www.haematologica.org/content/early/2019/03/11/haematol.2019.220608.abstract

Language

en

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