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Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
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Impact of TMPRSS6 gene polymorphism on iron overload among children with sickle cell disease

Eman A El-Bostany1, Eman A Elghoroury2, Eman H Thabet2

  • 1Department of Pediatrics, Institute of Medical Research and Clinical studies, National Research Centre, Cairo, Egypt.

Hematology/Oncology and Stem Cell Therapy
|September 12, 2025
PubMed

Insights

TMPRSS6 gene variations impact sickle cell disease (SCD) risk and iron overload. The rs4820268 AG genotype offers protection against iron overload in children with SCD.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Iron overload is a critical issue for children with sickle cell disease (SCD) requiring frequent transfusions.
  • The molecular basis of iron overload progression in SCD remains incompletely understood.

Purpose of the Study:

  • To investigate the influence of TMPRSS6 single nucleotide polymorphisms (SNPs) on iron status in children with SCD.
  • To explore the association between specific TMPRSS6 SNPs and susceptibility to SCD and iron overload.

Main Methods:

  • A case-control study involving 61 children with SCD and 42 healthy controls (aged 6-18 years).
  • Real-time polymerase chain reaction (PCR) was used to genotype TMPRSS6 SNPs (rs11704654, rs4820268, rs855791).
  • Iron overload parameters were measured, and hepcidin gene expression and hepcidin/iron ratio were assessed.

Main Results:

  • A significant protective association was observed between SCD and the rs11704654 polymorphism (OR = 0.36).
  • Significant associations were found between rs4820268, rs855791 polymorphisms and SCD risk.
  • The rs4820268 AG genotype showed higher hepcidin gene expression and hepcidin/iron ratio, indicating protection against iron overload.

Conclusions:

  • TMPRSS6 gene polymorphism plays a role in SCD susceptibility and iron status regulation.
  • The rs4820268 AG genotype is associated with protection against iron overload in SCD patients.
  • Targeting iron status modulation via TMPRSS6 SNPs presents a potential therapeutic avenue for SCD.
Abstract

Keywords:
Iron overloadsickle cell anemia

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