Association of HAMP Gene Expression with Liver and Renal Function Parameters in Iraqi Patients with β-Thalassemia
Author(s):
Ahlam Hameed Mageed1 , Lina Mussa Kadhim2
Date: 08/10/2026
doi: https://doi.org/10.5281/zenodo.8425890
Abstract
Background: β-thalassemia is a hemoglobinopathy which is inherited, in which the red blood cell
production is ineffective and the hemolytic anemia is severe, requiring chronic blood transfusion and
ultimately resulting in secondary systemic iron overload. The HAMP gene encodes hepcidin, a potent
inhibitor of iron absorption that orchestrates systemic iron homeostasis in a masterful fashion, at the
interface of the opposing erythroid suppressive and iron-sensing stimulatory iron-regulatory pathways.
The aim of this case-control study was to explore the dynamics of relative expression of HAMP gene, and
identify the direct pathophysiological links of progressive hepatic stress and the renal clearance parameters
in Iraqi multi-transfused β-thalassemia patients.
Methods: 50 transfusion-dependent β-thalassemia patients and 35 age and sex matched healthy controls
were recruited. Automated hematological and biochemical panels were used to measure hemoglobin (Hb),
serum ferritin and hepatic transaminases (S.GOT/AST, S.GPT/ALT), laboratory tests for GPT/ALT,
blood urea and serum creatinine. The upstream kinetic of the transcription of the HAMP gene was
measured by quantitative Real-Time PCR (RT-qPCR) normalized with GAPDH gene.
Results: the results showed that the mean hemoglobin level of thalassemic patients was significantly
decreased (8.61±0.78 g/dL vs. 13.93±1.64 g/dL, p<0.0001) along with a significant increase in iron
accumulation as demonstrated by massive hyperserotonemia (3462.18±27.00 ng/mL vs. 95.77±54.05
ng/mL, p<0.0001). In the patient group, HAMP gene expression was significantly higher by 9.64±2.15
fold (p<0.0001) than in the controls when measured as a relative gene expression. Bivariate mathematical
mapping showed that there was zero correlation between the fluctuations in the levels of HAMP and the
fluctuations in the levels of serum ferritin (r=+0.218, p=0.127). More importantly, HAMP upregulation
was highly correlated, statistically significant, and positively associated along the renal axis with the levels
of blood urea (r=+0.312, p=0.027) and serum creatinine (r=+0.384, p=0.006).
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