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Unveiling molecular mechanisms and therapeutic targets in HbH-CS disease: a focus on oxidative stress and

Liuying Nong1,2,3, Ling Shi1, Lihong Pang1

  • 1Department of Prenatal Diagnosis, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, 530021, China.

Open Life Sciences
|June 8, 2026
PubMed

Insights

This study reveals key molecular mechanisms in Hemoglobin H-Constant Spring (HbH-CS) disease, identifying apoptosis as a primary cell death pathway. Four crucial genes (AKT1, BCL2, CYCS, RBM15B) were found downregulated, offering potential therapeutic targets for HbH-CS.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Hemoglobin H-Constant Spring (HbH-CS) disease involves complex molecular pathways.
  • Oxidative stress and mitochondrial dysfunction are implicated in HbH-CS pathogenesis.

Purpose of the Study:

  • To investigate molecular mechanisms and identify therapeutic targets in HbH-CS disease.
  • To analyze genes related to oxidative stress and mitochondrial function in HbH-CS patients.

Main Methods:

  • Differential gene expression analysis using microarray data.
  • Bioinformatic retrieval of oxidative stress and mitochondrial genes.
  • Construction of protein-protein interaction networks and pathway analysis.
  • Identification of hub genes and m6A regulators.

Main Results:

  • 98 oxidative stress and mitochondrial-related genes (OMRGs) were identified, linked to cellular respiration and apoptosis.
  • Apoptosis was confirmed as the primary programmed cell death mechanism.
  • AKT1, BCL2, CYCS, and RBM15B were identified as key genes, with significantly downregulated mRNA expression in HbH-CS patients.

Conclusions:

  • Novel insights into HbH-CS molecular mechanisms were provided.
  • AKT1, BCL2, CYCS, and RBM15B represent potential therapeutic targets for HbH-CS.
  • Understanding these pathways can guide future clinical interventions.

Keywords:
apoptosismitochondrial functionoxidative damagethalassemia

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