Study the effect of hepcidin antimicrobial peptide gene polymorphism on fertility hormone in female with beta-thalassemia major
BACKGROUND: Beta thalassemia major is a hereditary blood disorder characterized by defective hemoglobin production, leading to severe anemia and multiple complications. Among these, reproductive dysfunction is a significant concern for affected females, often linked to iron overload from frequent bl...
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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Iraqi Journal of Hematology |
| Subjects: | |
| Online Access: | https://journals.lww.com/10.4103/ijh.ijh_18_25 |
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| Summary: | BACKGROUND:
Beta thalassemia major is a hereditary blood disorder characterized by defective hemoglobin production, leading to severe anemia and multiple complications. Among these, reproductive dysfunction is a significant concern for affected females, often linked to iron overload from frequent blood transfusions. The hepcidin antimicrobial peptide (HAMP) gene, a key regulator of iron homeostasis, may play a crucial role in this context. Variations in the HAMP gene could influence iron metabolism and, consequently, impact the secretion and regulation of fertility hormones. Understanding this relationship could provide insights into managing fertility issues and enhancing the quality of life for these patients.
OBJECTIVES:
This study aims to investigate the effect of HAMP gene polymorphism on fertility hormones in female patients with beta-thalassemia major.
PATIENTS, MATERIALS AND METHODS:
A cross-sectional case–control study was conducted over a period of 6 months from January to June 2024 involving 180 women (90 healthy control and 90 patients) aged 16–40 years. Patients were randomly selected according to the specific inclusion and exclusion criteria. The HAMP gene polymorphism was determined by polymerase chain reaction – restriction fragment length polymorphism, and the serum level of hepcidin hormone, ferritin, and fertility hormones were measured by Enzyme-Linked Immunosorbent Assay. SPSS Program was used to code, enter, and process the gathered data.
RESULTS:
The genetic analysis of HAMP gene (c.582A>G, rs10421768) revealed significant differences in genotype polymorphisms between patients and controls. Patients with GG genotype had the lowest hepcidin levels (P = 0.001). AG genotype was associated with the highest ferritin levels. Fertility hormone levels were lower in GG versus AG and AA genotypes.
CONCLUSIONS:
HAMP gene polymorphisms are associated with reduced hepcidin levels, increased iron overload, and altered fertility hormones in females with beta-thalassemia major, suggesting a genetic contribution to iron dysregulation and endocrine dysfunction in these patients. |
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| ISSN: | 2072-8069 2543-2702 |