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Relationship of Genetic Variability (HIF-1Α (rs11549465; P582S), TMPRSS6 (rs855791; V736A) and ABO (rs651007) and
Mohammad Pouya Samiee1, Azita Chegini2, Majid Shahabi3
1Hematology and Blood Banking, Blood Transfusion Research Center High Institute for Research and Education in Transfusion Medicine Tehran Iran.
Background And Aims:
Frequent blood donation can significantly increase the risk of iron deficiency, influenced by demographic, dietary, environmental, and genetic factors. This study aims to evaluate the association between iron deficiency and specific genetic variations (HIF-1α (rs11549465; P582S), TMPRSS6 (rs855791; V736A), and ABO (rs651007)) to advance personalized health management strategies.
Methods:
This cross-sectional study was conducted at the Iranian Blood Transfusion Organization (IBTO) between March and September 2023, targeting male donors registered as regular donors in the database (with a minimum of two donations in the past year and at least five donations over the past 3 years) aged 18-65. Strict inclusion criteria were applied to minimize potential confounding variables. To investigate genetic polymorphisms, we utilized techniques such as Sanger sequencing, allele-specific PCR, and high-resolution melt (HRM) analysis. Iron status was assessed by measuring key biochemical indicators-serum ferritin, Iron, transferrin saturation (TSAT), and total iron-binding capacity (TIBC)-through ELISA and colorimetric assays. Statistical analyses were performed using R software (version 4.1.1). Methods included one-way ANOVA, the Kruskal-Wallis test, the Shapiro-Wilk test, and independent samples t-tests. All tests were two-sided, with a significance level set at p < 0.05.
Results:
The rs11549465 polymorphism in HIF-1α was significantly associated with ferritin levels, with the CT genotype group exhibiting higher mean ferritin levels compared to the CC group (p = 0.02; 61.13 ± 42.87 ng/mL vs. 44.60 ± 29.40 ng/mL). No significant associations were observed between rs855791 or rs651007 polymorphisms and biochemical indicators of iron status.
Conclusion:
Genetic screening for the rs11549465 polymorphism could be integrated into donor management programs to personalize strategies for mitigating Iron deficiency risks. Additional research involving larger and more diverse groups is necessary to investigate interactions between genetic, dietary, and environmental factors.
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