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Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil
Dick-Guareschi, Jéssica; Fontana, Juliana Cristine; Sanseverino, Maria Teresa Vieira; Kubaski, Francyne; Sekine, Leo; Mesquita, Nanci Félix; Onsten, Tor Gunnar Hugo; Leistner-Segal, Sandra.
  • Dick-Guareschi, Jéssica; Hospital de Clínicas de Porto Alegre. Porto Alegre. BR
  • Fontana, Juliana Cristine; Hospital de Clínicas de Porto Alegre. Porto Alegre. BR
  • Sanseverino, Maria Teresa Vieira; Hospital de Clínicas de Porto Alegre. Porto Alegre. BR
  • Kubaski, Francyne; Hospital de Clínicas de Porto Alegre. Porto Alegre. BR
  • Sekine, Leo; Hospital de Clínicas de Porto Alegre. Porto Alegre. BR
  • Mesquita, Nanci Félix; Hospital de Clínicas de Porto Alegre. Porto Alegre. BR
  • Onsten, Tor Gunnar Hugo; Hospital de Clínicas de Porto Alegre. Porto Alegre. BR
  • Leistner-Segal, Sandra; Hospital de Clínicas de Porto Alegre. Porto Alegre. BR
Hematol., Transfus. Cell Ther. (Impr.) ; 44(3): 379-385, July-Sept. 2022. tab
Article Dans Anglais | LILACS | ID: biblio-1405013
ABSTRACT
ABSTRACT

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.
Sujets)


Texte intégral: Disponible Indice: LILAS (Amériques) Sujet Principal: Donneurs de sang / Prothrombine / Thrombophilie Type d'étude: Etude d'étiologie / Étude de prévalence / Recherche qualitative / Facteurs de risque Limites du sujet: Humains Pays comme sujet: Amérique du Sud / Brésil langue: Anglais Texte intégral: Hematol., Transfus. Cell Ther. (Impr.) Thème du journal: Hematologia / TransfusÆo de Sangue Année: 2022 Type: Article Pays d'affiliation: Brésil Institution/Pays d'affiliation: Hospital de Clínicas de Porto Alegre/BR

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Texte intégral: Disponible Indice: LILAS (Amériques) Sujet Principal: Donneurs de sang / Prothrombine / Thrombophilie Type d'étude: Etude d'étiologie / Étude de prévalence / Recherche qualitative / Facteurs de risque Limites du sujet: Humains Pays comme sujet: Amérique du Sud / Brésil langue: Anglais Texte intégral: Hematol., Transfus. Cell Ther. (Impr.) Thème du journal: Hematologia / TransfusÆo de Sangue Année: 2022 Type: Article Pays d'affiliation: Brésil Institution/Pays d'affiliation: Hospital de Clínicas de Porto Alegre/BR