Relationship Between TMPRSS6 Polymorphisms and Serum Iron Status in the Treatment of Iron Deficiency Anemia in Subclinical Hypothyroidism: A Pilot Study

Yıl 2025, Cilt: 7 Sayı: 2, 78 - 84, 21.07.2025

Nurten Bahtiyar , Birsen Aydemir , Deniz Ahmet Cinemre , Güneş Cihan Cinemre , Cengiz Karacaer , Leyla Sevinç Afşar , Fatma Behice Serinkan

https://doi.org/10.38175/phnx.1656193

Öz

Objective: This study aims to investigate the impact of three SNPs (rs4820268, rs2235321, rs855791) in the TMPRSS6 gene on iron metabolism in patients with subclinical hypothyroidism and iron deficiency anemia (IDA), as well as to evaluate the effects of iron-only and iron-thyroxine combination treatments on individuals with heterozygous and mutant genotypes.
Material and Method: Ninety-five patients with subclinical hypothyroidism and IDA, alongside 30 healthy controls, participated in the study. Participants were grouped as follows: Control (N=30), Hypothyroidism (N=30), Hypothyroidism IDA (N=30), and Hypothyroidism IDA+Thyroxine (N=35). TMPRSS6 rs4820268 and rs855791 polymorphisms were analyzed using TaqMan SNP Genotyping Assays and qPCR, while rs2235321 was genotyped using Allele-Specific PCR (ASPCR). Complete blood count, iron levels, and total iron-binding capacity (TIBC) were measured with an automated analyzer, while ferritin levels were analyzed using immunoassay.
Results: No significant differences were found in the genotype and allele distributions of TMPRSS6 polymorphisms (rs4820268, rs2235321, rs855791) between patients and controls. For rs4820268 and rs855791 heterozygous and mutant genotypes, ferritin levels were lower in the Hypothyroidism and Hypothyroidism IDA groups compared to controls, while TIBC was higher in the Hypothyroidism group. Ferritin was elevated and TIBC decreased in the Hypothyroidism IDA+Thyroxine group compared to Hypothyroidism and Hypothyroidism IDA groups. In terms of the rs2235321 polymorphism, iron and ferritin levels were higher in the Hypothyroidism+IDA+Thyroxine group than in the other hypothyroidism groups, but TIBC was lower.
Conclusion: No significant variation was observed in the genotype and allele frequencies of TMPRSS6 polymorphisms between healthy individuals and those with hypothyroidism. Nevertheless, considering the relationship between hypothyroidism, iron metabolism, and treatment response, particularly in patients receiving combined therapy, treatment-related changes in TIBC and ferritin levels were observed.

Anahtar Kelimeler

Subclinical Hypothyroidism , Iron Deficiency Anemia , TMPRSS6 Gene , SNP

Subklinik Hipotiroidizmde Demir Eksikliği Anemisinin Tedavisinde TMPRSS6 Polimorfizmleri ile Serum Demir Durumu Arasındaki İlişki: Pilot Çalışma

Öz

Amaç: Bu çalışma, TMPRSS6 genindeki üç tek nükleotid polimorfizminin (SNP) (rs4820268, rs2235321, rs855791) subklinik hipotiroidizm ve demir eksikliği anemisi (DEA) olan hastalarda demir metabolizması üzerindeki etkilerini incelemeyi ve heterozigot ve mutant genotiplere sahip bireylerde yalnızca demir ve demir-tiroksin kombinasyon tedavilerinin etkilerini değerlendirmeyi amaçlamaktadır.
Gereç ve Yöntem: Çalışmaya subklinik hipotiroidizm ve DEA tanılı 95 hasta ile 30 sağlıklı kontrol dahil edilmiştir. Katılımcılar şu gruplara ayrılmıştır: Kontrol (N=30), Hipotiroidizm (N=30), Hipotiroidizm+DEA (N=30) ve Hipotiroidizm+DEA+Tiroksin (N=35). TMPRSS6 rs4820268 ve rs855791 polimorfizmleri TaqMan SNP Genotipleme Analizleri ve qPCR ile, rs2235321 polimorfizmi ise Alel-Spesifik PCR (ASPCR) yöntemi ile genotiplendirilmiştir. Tam kan sayımı, demir seviyeleri ve total demir bağlama kapasitesi (TDBK) otomatik analizör ile ölçülürken, ferritin seviyeleri immünoassay yöntemi ile analiz edilmiştir.
Bulgular: TMPRSS6 polimorfizmlerinin (rs4820268, rs2235321, rs855791) genotip ve alel dağılımlarında hasta ve kontrol grupları arasında anlamlı bir fark saptanmamıştır. Rs4820268 ve rs855791 heterozigot ve mutant genotipleri açısından incelendiğinde, Hipotiroidizm ve Hipotiroidizm+DEA gruplarında ferritin seviyeleri kontrol grubuna göre daha düşük, TDBK ise Hipotiroidizm grubunda daha yüksek bulunmuştur. Hipotiroidizm+DEA+Tiroksin grubunda ise ferritin seviyeleri artarken, TDBK düşmüştür. rs2235321 polimorfizmi açısından, Hipotiroidizm+DEA+Tiroksin grubunda demir ve ferritin seviyeleri diğer hipotiroidi gruplarına göre daha yüksekti, ancak TDBK daha düşüktü.
Sonuç: TMPRSS6 polimorfizmlerinin genotip ve alel frekanslarında sağlıklı bireyler ile hipotiroidi hastaları arasında anlamlı bir farklılık gözlenmemiştir. Bununla birlikte, hipotiroidizm, demir metabolizması ve tedavi yanıtı arasındaki ilişki dikkate alındığında, özellikle kombine tedavi alan hastalarda TDBK ve ferritin seviyelerinde tedaviye bağlı değişiklikler gözlemlenmiştir.

Anahtar Kelimeler

Subklinik Hipotiroidizm , Demir Eksikliği Anemisi , TMPRSS6 Geni , SNP

Kaynakça

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