Prevalence of thrombophilia-associated genetic risk factors in blood donors of a regional hospital in southern Brazil
| Autor: | Nanci Félix Mesquita, Francyne Kubaski, Leo Sekine, Maria Teresa Vieira Sanseverino, Tor Gunnar Hugo Onsten, Sandra Leistner-Segal, Juliana Cristine Fontana, Jéssica Dick-Guareschi |
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| Rok vydání: | 2022 |
| Předmět: |
medicine.medical_specialty
Hyperhomocysteinemia biology business.industry Factor V Single-nucleotide polymorphism Hematology 030204 cardiovascular system & hematology medicine.disease Thrombophilia Gastroenterology 03 medical and health sciences Venous thrombosis 0302 clinical medicine Internal medicine Methylenetetrahydrofolate reductase Hemostasis Genotype medicine biology.protein Immunology and Allergy business 030215 immunology |
| Zdroj: | Hematology, Transfusion and Cell Therapy. 44:379-385 |
| ISSN: | 2531-1379 |
| Popis: | 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 Clinicas 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. |
| Databáze: | OpenAIRE |
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