The aim of this study is to assess the risk of cancer and thalassemia development in patients carrying methylenetetrahydrofolate reductase (MTHFR) gene polymorphism. The study emphasizes the role of folate deficiency in methionine metabolism, a process known to affect the immune system and coagulation, potentially influencing tumor development and complications associated with thalassemia.

Material and methods. This review article examines existing research on the association between MTHFR gene polymorphisms and their potential link to cancer and thalassemia. A comprehensive literature search was conducted using databases such as PubMed, Google Scholar, and other reputable scientific sources, with a focus on studies published since 2010. Only those studies that investigated the relationship between MTHFR polymorphisms, hypercoagulability, and immune function, and that provided sufficient statistical data, were included in the analysis.

Results. MTHFR gene polymorphism directly affects all processes related to methionine metabolism. Folate deficiency negatively impacts the synthesis of proteins involved in the anticoagulant system and the synthesis of genetic material for rapidly proliferating cells, leading to anemia, thrombocytopenia, and lymphocytosis. On one hand, a decrease in the activity of actively proliferating cells may seem beneficial in tumor treatment. However, the negative impact of folate deficiency on the immune system, particularly T-cells, creates favorable conditions for tumor escape and immune surveillance failure. The association between MTHFR gene polymorphism and complications related to a hypercoagulable state in patients with thalassemia remains controversial: some scientists report a statistically significant relationship, while others largely refute this claim.

Conclusions. MTHFR gene polymorphism may influence the risk of cancer and thalassemia through its effects on folate metabolism, immune function, and coagulation. Further studies are needed to clarify the relationship between MTHFR gene polymorphism, hypercoagulability, and immune system dysfunction in these conditions.