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

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...

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Bibliographic Details
Published in:Hematology, Transfusion and Cell Therapy Transfusion and Cell Therapy, 2022-07, Vol.44 (3), p.379-385
Main Authors: Dick-Guareschi, Jéssica, Fontana, Juliana Cristine, Sanseverino, Maria Teresa Vieira, Kubaski, Francyne, Sekine, Leo, Mesquita, Nanci Félix, Onsten, Tor Gunnar Hugo, Leistner-Segal, Sandra
Format: Article
Language:English
Subjects:
Blood donors
Factor II
Factor V
MEDICINE, GENERAL & INTERNAL
Methylenetetrahydrofolate reductase
Original
Prothrombin
Thrombophilia
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Summary: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.
ISSN:2531-1379
2531-1387
2531-1387
DOI:10.1016/j.htct.2021.01.010