HAEMATOL-2019-220608v2-Rezende.pdf (107.24 kB)
Download fileVariation of rs3754689 at lactase gene and inhibitors in admixed Brazilian patients with hemophilia A
journal contribution
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 RezendeHemophilia 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.2019.220608Author affiliation
/Organisation/COLLEGE OF LIFE SCIENCES/Biological Sciences/Genetics and Genome BiologyVersion
- AM (Accepted Manuscript)