Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil.
Blood donors
Factor II
Factor V
Methylenetetrahydrofolate reductase
Prothrombin
Thrombophilia
Journal
Hematology, transfusion and cell therapy
ISSN: 2531-1387
Titre abrégé: Hematol Transfus Cell Ther
Pays: Brazil
ID NLM: 101725732
Informations de publication
Date de publication:
Historique:
received:
24
07
2020
revised:
02
01
2021
accepted:
27
01
2021
pubmed:
30
3
2021
medline:
30
3
2021
entrez:
29
3
2021
Statut:
ppublish
Résumé
Thromboembolic events occur due to an imbalance in the hemostasis and some factors associated with this condition can be inherited. In order to evaluate the frequency of genotypes considered to be common hereditary risk factors for thrombophilia associated with venous thrombosis (g.1691G > A and g.20210G > A) and hyperhomocysteinemia (g.677C > T and g.1298A > C), samples from voluntary healthy blood donors at the Hospital de Clínicas de Porto Alegre were tested. We examined 325 blood samples from blood donors collected from October 2017 to July 2018. Blood was collected on filter paper and the DNA was extracted for single nucleotide polymorphisms (SNPs) analysis using the qualitative real time polymerase chain reaction. The calculated frequencies of each genetic variant in heterozygosity were 4% for the FV gene (g.1691G > A), 4% for the F2 gene (g.20210G > A) and 42% and 39% for methylenetetrahydrofolate reductase (MTHFR), g.677C > T and g.1298A > C, respectively. Only the genetic variants of MTHFR were found in homozygosity, with frequencies of 14% and 6% (g.677C > T and g.1298A > C), respectively. Altogether, these results describe the frequencies of genetic variants associated with venous thrombosis and hyperhomocysteinemia in the analyzed group and are important to enhance our current knowledge about the genetic profiles of Brazilian blood donors.
Identifiants
pubmed: 33775585
pii: S2531-1379(21)00035-3
doi: 10.1016/j.htct.2021.01.010
pmc: PMC9477773
pii:
doi:
Types de publication
Journal Article
Langues
eng
Pagination
379-385Informations de copyright
Copyright © 2021 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. All rights reserved.
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