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2019, Number 1

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Rev Hematol Mex 2019; 20 (1)

MTHFR A1298C polymorphism in Cuban patients with thrombophilia

Martínez-Echevarría MT, Casanueva-Calero K, Hernández-Acea B, Torres- Yibar W, García-Menédez G

Language: Spanish
References: 26
Page: 5-10
PDF size: 255.12 Kb.


ABSTRACT

Background: The hyperhomocysteinemia caused by the A1298C polymorphism in the enzyme methylenetetrahydrofolate reductase is related to the development of thrombotic events although there is still no agreement regarding its role in the pathogenesis of thrombosis. The frequency of the MTHFR A1298C polymorphism varies markedly for each population.
Objective: To evaluate, for the first time, the behavior of the MTHFR A1298C polymorphism frequency in a group of young Cuban patients with a history of at least one thrombotic event.
Material and Method: A descriptive cross-sectional study was carried out from January 2017 to January 2018, which included patients younger than 50 years, of both sexes, from the Hematology clinic of the Hermanos Ameijeiras Hospital, La Habana, Cuba. Detection of the MTHFR A1298C polymorphism was carried out using the Lightmix® in-vitro diagnostics commercial kit MTHFR A1298C.
Results: From 152 studied subjects 93 (61.2%) had the normal genotype and 59 (38.8%) had the mutation. Of these last 49 (32.2%) were heterozygous and 10 (6.6%) were homozygous. We did not find statistically significant differences associated with gender, skin color and clinical diagnostics.
Conclusions: The frequency of the MTHFR A1298C polymorphism is low among young Cuban adults with thrombophilia and, among carriers, heterozygotes predominate. No association was found between MTHFR A1298C polymorphism and thrombosis and between MTHFR A1298C polymorphism and miscarriage.


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