Abstract
Relevance. Iron deficiency anemia is a disease present all over the world and maintaining a high incidence rate of both general and primary morbidity despite various options for correction and prevention of this pathology. Molecular genotyping opens up new possibilities for understanding the pathogenetic mechanisms of disease development, as well as for finding a more targeted and personalized approach to therapy.
The aim of the study was to determine genetic markers of the risk of iron deficiency anemia by assessing polymorphic variants of rs235756 of the BMP2 gene, rs855791 of the TMPRSS6 gene, rs104894696 of the HAMP gene, rs4820268 of the TMPRSS6 gene and rs3817672 of the TFR1 gene.
Material and methods. The study included 97 patients with mild iron deficiency anemia and 120 people in the control group. Genotyping was performed by real-time polymerase chain reaction using primers and probes selected using the open online resource PrimerBlast (https://www.ncbi.nlm.nih.gov/tools/primerblast/).
Results. Genetic markers of the risk of developing IDA were identified: rs235756 of the BMP2 gene, rs855791 of the TMPRSS6 gene and resistant course of IDA: rs4820268 of the TMPRSS6 gene. This allows us to recommend determining these genetic markers when examining patients with iron deficiency anemia who do not respond to therapy with iron-containing drugs.
Conclusion. The identified marker profiles of IDA genotypes can optimize the approach to diagnosis, treatment and prevention of this pathology, as well as expand the range of criteria for predicting the course of the disease.
Keywords
Authors and affiliations
A.E. Bakirova(1), A.S. Parcernyak(1), D.A. Kudlay(2–4), A.K. Chumakova(5), G.R. Abdeeva(4)
1-Federal State Budgetary Military Educational Institution of Higher Education “Military Medical Academy named after S.M. Kirov”
of the Ministry of Defense of the Russian Federation, Lebedeva str., 6, Saint Petersburg, 194044, Russian Federation; 2-Federal State Autonomous Educational Institution of Higher Education I.M.Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Trubetskaya str., 8, build. 2, Moscow, 119991, Russian Federation; 3-Federal State Budgetary Institution “State Scientific Center Institute of Immunology”, Federal Medical and Biological Agency, Kashirskoe sh., 24, Moscow, 115522, Russian Federation; 4-Federal State Budgetary Educational Institution of Higher Education “Bashkir State Medical University”, Ministry of Health of the Russian Federation, Lenina St., 3, Ufa, Republic of Bashkortostan, 450008, Russian Federation; 5I-nstitute of Biochemistry and Genetics is a separate structural division of the Federal State Budgetary Scientific Institution Ufa Federal Research Center of the Russian Academy of Sciences, Oktyabrya Ave., 71, Ufa, Republic of Bashkortostan, 450054, Russian Federation
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