Philippine Journal of Science
147 (1): 99-112, March 2018
ISSN 0031 – 7683
Date Received: 29 May 2017

Blood Iron Concentration and Status in Pregnant Filipino Women with
Single Nucleotide Polymorphisms in HFE, TMPRSS6, and TF

Vanessa Joy A. Timoteo1*, Leslie Michelle M. Dalmacio2, Jacus S. Nacis1,
Juanita M. Marcos1, Marietta P. Rodriguez1, and Mario V. Capanzana1

1Food and Nutrition Research Institute, Department of Science and Technology,
DOST Complex, Bicutan, Taguig City 1631 Philippines
2Department of Biochemistry and Molecular Biology, College of Medicine,
University of the Philippines, 547 Pedro Gil St., Ermita, Manila 1000 Philippines

 *Corresponding author: vjtimoteo@gmail.com

ABSTRACT

Anemia is a significant health problem in the Philippines, especially in pregnant women. Investigation of single nucleotide polymorphisms (SNPs) that are associated with blood iron concentration and status may identify the underlying genetic factors contributing to incidences of anemia, iron deficiency, and iron deficiency anemia (IDA) in pregnant Filipino women. This study determined the genotype distribution of SNPs in the hemochromatosis gene (HFE), transmembrane protease, serine 6 gene (TMPRSS6), and transferrin gene (TF) in pregnant Filipino women and their effects on levels of hemoglobin (Hb), hematocrit (Hct), serum ferritin (SF), serum iron (SI), total iron binding capacity (TIBC), unsaturated iron binding capacity (UIBC), and percent transferrin saturation (TS%). Non-parametric Mann Whitney U test and Analysis of Covariance were performed to evaluate the effect of SNPs on blood iron levels, where maternal age, age of gestation, iron supplementation, and area of residence were considered as covariates. The minor allele frequencies of SNPs in TMPRSS6 and TF among the 109 pregnant women living in Quezon, Palawan are higher than previously reported values. Comparison across SNP genotypes show that: (1) carriers of the heterozygous CG of HFE rs1799945 have significantly lower Hct levels than carriers of the wild-type CC, (2) carriers of the homozygous risk genotypes of TMPRSS6 rs855791 (TT) and rs4820268 (GG) have significantly higher UIBC levels than carriers of the wild-type CC and AA genotypes, (3) carriers of CT and risk TT genotypes of TMPRSS6 rs855791 and AG and risk GG genotypes of rs4820268 have lower TS% than carriers of the wild-type genotypes, and (4) carriers of AG and risk AA genotypes of TF rs3811647 have significantly higher TIBC and UIBC levels than carriers of the wild-type GG genotype. These findings imply that SNPs in TMPRSS6 and TF are potential genetic risk factors for anemia, iron deficiency, and IDA in Filipinos.