Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil.

Autor:	Dick-Guareschi J; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Fontana JC; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Sanseverino MTV; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Kubaski F; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Sekine L; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Mesquita NF; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Onsten TGH; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil., Leistner-Segal S; Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil. Electronic address: ssegal@hcpa.edu.br.
Jazyk:	angličtina
Zdroj:	Hematology, transfusion and cell therapy [Hematol Transfus Cell Ther] 2022 Jul-Sep; Vol. 44 (3), pp. 379-385. Date of Electronic Publication: 2021 Mar 16.
DOI:	10.1016/j.htct.2021.01.010
Abstrakt:	Introduction: 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. Methods: 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. Results: 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. Discussion: 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. (Copyright © 2021 Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
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