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Sci J Iran Blood Transfus Organ 2021, 18(3): 205-214 Back to browse issues page
Association of rs855791TMPRSS6 polymorphism with iron deficiency anemia
َA. Baban, F. Keshavarzi , B. Nikkhoo
Keywords: Iron-Deficiency Anemia, Ferritin, Hemoglobin
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Type of Study: Research | Subject: Molecular Genetic
Published: 2021/10/2
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  1. Allison J, Drury L, Ford JB. Two Novel TMPRSS6 Variants in a Compound Heterozygous Child With Iron Refractory Iron Deficiency Anemia. J Pediatr Hematol Oncol 2020; 4(4): 238-9.
  2. Finberg K, Whittlesey R, Fleming M, Andrews N. Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis. Blood 2010; 18: 3817-26.
  3. Ramsay AJ, Quesada V, Sanchez M, Garabaya C, Sarda MP, Baiget M, et al. Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Hum Mol Gen 2009; 10: 55-9.
  4. Dunne JR, Malone D, Tracy JK, Gannon C, Napolitano LM. Perioperative anemia: an independent risk factor for infection, mortality, and resource utilization in surgery. J Surg Res 2002;  2: 237-44.
  5. Nemeth E, Ganz T. Regulation of iron metabolism by hepcidin. Annu Rev Nutr 2006; 26: 323-42.
  6. Benyamin B, Ferreira MA, Willemsen G, Gordan S, Middelberg R. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. Nat Genet 2009; 41: 1173-5.
  7. Chambers JC, Zhang W, Li Y, Sehmi J, Zabaneh D. Genome-wide association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat Genet 2009; 41: 1170-2.
  8. Batar B, Bavunogl I, Hacioglu Y, Cengiz M, Mutlu T, Yavuzer S, et al. The role of TMPRSS6 gene variants in iron-related hematological parameters in Turkish patients with iron deficiency an- emia. Gene 2018; 673, 201-5.
  9. Cakmakli S, Acipayam C, Yenmis Inan MN, Dogan H. Iron refractory iron deficiency anemia due to 374 base pairs deletion in the tmprss6 gene. J Pediatr Hematol Oncol 2019; 41(5): e333-5.
  10. Nalado AM, Dickens C, Dix-Peek T, Mahlangu N, Olorunfemi G, Paget G, et al. MPRSS6 rs855791 polymorphism and susceptibility to iron deficiency anaemia in non-dialysis chronic kidney disease patients in South Africa. Int J Mol Epidemiol Genet 2019; 10 (1): 1-9.
  11. Al-Amer O, Hawasawi Y, Oyouni AAA, Alshehri M, Alasmari A, Alzahrani O, et al. Study the association of transmembrane serine protease 6 gene polymorphisms with iron deficiency status in Saudi Arabia. Gene 2020; 751: 144767.
  12. David P, Stefan GD, Madelon M. Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer. Mol Cancer J 2009; 10: 101.
  13. Rishi G, Wallace DF, Subramaniam VN. Hepcidin: regulation of the master iron regulator. Bio Sci 2015; 35(3): e00192.
  14. Delbini P, Vaja V, Graziadei G, Refaldi C, Cappellini M. Genetic variability of TMPRSS6 and its association with iron deficiency anaemia. Br J Haematol 2010; 151: 281-4.
  15. Gan W, Guan Y, Wu Q, Makrides M, Jing L. Association of TMPRSS6 polymorphisms with ferritin, hemoglobin, and type 2 diabetes risk in a Chinese Han population. AM J Clin Nutr 2012; 95: 626-32.
  16. Pei N, Chunma M, You H, Yuankou C, Mingrau K. Common variants in TMPRSS6 are associated with iron status and erythrocyte volume. J Med Sci 2014; 11: 614.
  17. Shinta D, Asmarinah., Adhiyanto C, Htet MK, Fahmida UShinta D, et al. The Association of TMPRSS6 Gene Polymorphism and Iron Intake with Iron Status among Under-Two-Year-Old Children in Lombok, Indonesia. Nutrients 2019; 11(878): 1-9.

Sci J Iran Blood Transfus Organ 2021;18(3): 205-214
Original Article

Association of rs855791TMPRSS6 polymorphism with iron deficiency anemia
Baban A.1, Keshavarzi F.1, Nikkhoo B.2
1Department of Biology, Sanandaj Branch, Islamic Azad University, Sanandaj, Iran
2Faculty of Medicine, Kurdistan University of Medical Sciences, Sanandaj, Iran
Background and Objectives
According to the relevant studies, among the reported TMPRSS6 polymorphisms associated with iron deficiency anemia, rs855791 has the highest association with hemoglobin level and disease severity. The aim of this study was to investigate the relationship between rs855791and iron deficiency anemia in Sanandaj.
Materials and Methods
In this case-control study conducted in the Spring of 2016, the frequency of rs855791 polymorphism in TMPRSS6 gene was evaluated in 40 patients with iron deficiency anemia and 80 healthy randomly selected individuals without age and sex restrictions by PCR-RFLP method. Then, the relationship between rs855791  and the level of hemoglobin, ferritin, and MCV in sick and healthy individuals was investigated by SPSS V19 statistical software.
The frequencies of CC, CT, and TT among 40 patients were 15, 37.5, and 47.5 and they were 33.75, 42.5, and 23.75% among 80 healthy controls, respectively. Therefore, there was a significant relationship between TT genotype and disease (p= 0.010). Also, a significant relationship was observed between the frequency of CC and the absence of disease [OR= 0.34, p= 0.035]. The higher frequency of CT in the control group than the indicates a lower risk of people with CT genotype. The results also show a significant relationship between low Hb, MCV, and Ferritin with the genotype so that people with TT genotype had lower Hb, MCV, and ferritin than people with CC and TC genotypes.
TMPRSS6 rs855791 polymorphism was shown to be effective in subject patients with iron deficiency anemia in Sanandaj city.
Key words: Iron-Deficiency Anemia, Ferritin, Hemoglobin
Received: 1 May 2021
Accepted: 9 Jun 2021

Correspondence: Keshavarzi F., PhD in Molecular Genetics. Associate Professor of Sanandaj Branch, Islamic Azad University.
Postal Code: 6616935391, Sanandaj, Iran. Tel: (+9887) 33288661; Fax: (+9887) 33288661
E-mail: f.keshavarzi@iausbj.ac.ir
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Baban َ, Keshavarzi F, Nikkhoo B. Association of rs855791TMPRSS6 polymorphism with iron deficiency anemia. Sci J Iran Blood Transfus Organ. 2021; 18 (3) :205-214
URL: http://bloodjournal.ir/article-1-1405-en.html

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Volume 18, Issue 3 (Autumn 2021) Back to browse issues page
فصلنامه پژوهشی خون Scientific Journal of Iran Blood Transfus Organ
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