Evidence map›Paper›PMID 38954212›Full record

ArticleBiochemical genetics2025

Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients.

Mona F Sokkar, Mona Hamdy, Mohamed B Taher, Heba El-Sayed, Eman Abdelmotaleb Bayomi, Khalda S Amr, Ghada Y El-Kamah

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Article in Biochemical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

7 authors.

Mona F SokkarMolecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt. monasokkar@yahoo.com.
Mona HamdyDepartment of Pediatrics, Faculty of Medicine, Cairo University, Cairo, Egypt.
Mohamed B TaherClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Heba El-SayedClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Eman Abdelmotaleb BayomiMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Khalda S AmrMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.
Ghada Y El-KamahClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre (NRC), Cairo, Egypt.

Funding

Science and Technology Development Fund 43402
6 · The paper itself

Abstract

Iron loading is regarded as the primary cause of endocrine abnormalities in thalassemia major patients. Thus, the purpose of the current research was to explore the impact of thalassemia genotypes, hepcidin antimicrobial peptide (HAMP) and hereditary hemochromatosis (HFE) gene variants, and hepcidin expression on serum ferritin and endocrinal complications in thalassemia patients. The study comprised fifty beta-thalassemia cases and fifty age- and sex-matched controls. Genotyping of the Beta-globin gene (HBB), HAMP, and exon 2 of the HFE gene was performed using Sanger sequencing. C282Y (c.845G > A) variant of the HFE gene was determined by PCR-RFLP. Hepcidin mRNA expression was assessed by qRT-PCR. Biochemical and hormonal studies were done for all patients. Hypogonadism and short stature were found in 56% and 20% of the investigated cases, respectively. Molecular studies reported a statistically higher frequency of the HAMP variant c.-582A > G in thalassemic patients than controls. Significant downregulation of hepcidin expression was found in cases compared to healthy subjects that was significantly associated with short stature. Considering the thalassemia alleles, the IVSI.1G > A (β

Indexed as

beta-Globinsbeta-ThalassemiaHemochromatosis ProteinHepcidinsHypogonadismAdolescentAdultCase-Control StudiesChildEgyptFemaleGenotypeHumansMaleYoung Adultbeta-GlobinsHAMP protein, humanHemochromatosis ProteinHepcidinsHFE protein, humanBeta thalassemiaEndocrine complicationsHAMP geneHepcidinHFE gene

Identifiers

PMID38954212

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.