Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.S65C
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HFE

NM_000410.4:p.S65C

Associated Papers

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

Temel SG et al.

International Journal of Molecular Sciences, 2026

Genetic variants underlying precancerous conditions of hepatocellular carcinoma.

Guerrero JJG et al.

International Journal of Cancer, 2026

Incorrect Genotyping in a Hemochromatosis Patient Heterozygous for HFE C282Y and Q283P Variants.

Gils C et al.

International Journal of Laboratory Hematology, 2025

Genetic patterns & public health implications of sickle cell anaemia across populations: A systematic review.

Shrivastava M et al.

The Indian Journal of Medical Research, 2025

Array genotyping of transfusion-relevant blood cell antigens in 6946 ancestrally diverse study participants.

Gleadall NS et al.

Blood, 2025

40499009 (PubMed )
Supplement: BLOOD_BLD-2025-028902-mmc2.xlsx › st6-hfe-counts

Isolated Non-Progressive Hemidystonia in a Patient Homozygous for H63D Variant of Hereditary Hemochromatosis: A Case Report and Systematic Literature Review of Movement Disorders in Hereditary Hemochromatosis.

Kalampokini S et al.

Diagnostics (basel, Switzerland), 2025

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

Sokkar MF et al.

Biochemical Genetics, 2025

Polymorphic Distribution of Human Homeostatic Iron Regulator Gene H63D rs1799945 and Clinico-Hematological Parameters of Sickle Cell Anemia Patients: A Case-Control Study in Northern Ghana.

Appiah SK et al.

Health Science Reports, 2025

Next Generation Sequencing Analysis in Patients Affected by Parkinson's Disease and Correlation Between Genotype and Phenotype in Selected Clinical Cases.

Pilotto A et al.

International Journal of Molecular Sciences, 2025

Hereditary Alpha Tryptasemia: Survey of Concomitant Genetic Testing.

Butterfield JH et al.

International Archives of Allergy and Immunology, 2025

Selected Genetic Characteristics of the Vietnamese Minority Living in the Czech Republic.

Pham KH et al.

Folia Biologica, 2025

HFE mutations in patients with iron overload in Santa Catarina: a cross-sectional study.

Pagliosa CM et al.

Sao Paulo Medical Journal = Revista Paulista De Medicina, 2025

Association of quantitative susceptibility mapping signal in gray matter with clinical characteristics and aging-related MRI markers: The Multi-Ethnic Study of Atherosclerosis.

Heckbert SR et al.

Neuroimage. Clinical, 2025

Iron Overload in Histidine-to-Aspartic Acid Substitution at 63 (H63D) Gene Heterozygous Hereditary Hemochromatosis With Erythrocytosis: A Case Report.

Abeyagunawardena I et al.

Cureus, 2024

The Genetic Profile of Combat Sport Athletes: A Systematic Review of Physiological, Psychological and Injury Risk Determinants.

Anastasiou K et al.

International Journal of Environmental Research and Public Health, 2024

Genetic Variations and Nonalcoholic Fatty Liver Disease: Field Synopsis, Systematic Meta-Analysis, and Epidemiological Evidence.

Li YM et al.

Biomedical and Environmental Sciences : Bes, 2024

39198240 (PubMed )
Supplement: cfb0899a-32e9-4dbf-91a2-828213d28f7c.pdf

Cardiac manifestations in inherited metabolic diseases.

Cuenca-Gómez JÁ et al.

Current Problems in Cardiology, 2024

HFE and Non-HFE Hereditary Hemochromatosis Based on Screening of 854 Individuals: 12 Years of an Iranian Experience.

Zarifian Yeganeh R et al.

Genetic Testing and Molecular Biomarkers, 2024

Hemochromatosis-How Not to Overlook and Properly Manage "Iron People"-A Review.

Szczerbinska A et al.

Journal of Clinical Medicine, 2024

Serum ferritin level is associated with liver fibrosis and incident liver-related outcomes independent of HFE genotype in the general population.

Männistö VT et al.

Scandinavian Journal of Gastroenterology, 2024

Hereditary hemochromatosis caused by a C282Y/H63D mutation in the HFE gene: A case report.

Li D et al.

Heliyon, 2024

HFE Mutations in Neurodegenerative Disease as a Model of Hormesis.

Marshall Moscon SL et al.

International Journal of Molecular Sciences, 2024

Effect of Prenatal Iron Supplementation Adapted to Hemoglobin Levels in Early Pregnancy on Fetal and Neonatal Growth-ECLIPSES Study.

Díaz-Torres S et al.

Nutrients, 2024

Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.

Benetti A et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2024

Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome.

Correa Brito L et al.

Frontiers in Genetics, 2024

38528912 (PubMed )
Supplement: Table1.xlsx › ACMG_Clasification

Blood donation for iron removal in individuals with HFE mutations: study of efficacy and safety and short review on hemochromatosis and blood donation.

Infanti L et al.

Frontiers in Medicine, 2024

Detection of Major Mutations in CFTR, SERPINA1, HFE Genes in Benign Unconjugated Hyperbilirubinemia Phenotype.

Ivanova AA et al.

Sovremennye Tekhnologii V Meditsine, 2024

[Diagnosis and treatment of iron overload].

Ruivard M et al.

La Revue De Medecine Interne, 2023

Screening for Hereditary Hemochromatosis in Newly Referred Diabetes Mellitus.

Lockhart M et al.

American Journal of Medicine Open, 2023

Frequency Evaluation of the Interleukin-6 -174G>C Polymorphism and Homeostatic Iron Regulator (HFE) Mutations as Disease Modifiers in Patients Affected by Systemic Lupus Erythematosus and Rheumatoid Arthritis.

Carini M et al.

International Journal of Molecular Sciences, 2023

Hereditary hemochromatosis: The complex role of the modifier genes.

Biasiotto G et al.

Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2023

Polymorphisms Related to Iron Homeostasis Associate with Liver Disease in Chronic Hepatitis C.

Wróblewska A et al.

Viruses, 2023

A haemochromatosis-causing HFE mutation is associated with SARS-CoV-2 susceptibility in the Czech population.

Hubacek JA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Hereditary hemochromatosis beyond hyperferritinemia: Clinical and laboratory investigation of the patient's profile submitted to phlebotomy in two reference centers in southern Brazil.

Kersting N et al.

Genetics and Molecular Biology, 2023

Erythropoietin Concentration in Boys With p.His63Asp Polymorphism of the HFE Gene.

Kaczorowska-Hac B et al.

Journal of Pediatric Hematology/oncology, 2022

Screening for hereditary haemochromatosis in patients undergoing knee arthroplasty : a retrospective cohort study of 2,035 patients.

Krasin E et al.

Bone & Joint Open, 2021

Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.

Ravasi G et al.

Genes, 2021

Hereditary Hemochromatosis: Rapid Evidence Review.

Kane SF et al.

American Family Physician, 2021

Significance of Hereditary Hemochromatosis Gene (HFE) Mutations in Chronic Hepatitis C and Hepatocellular Carcinoma Patients in Egypt: A Pilot Study.

Dawood RM et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2021

Hyperferritinaemia and iron overload in Asian patients: lessons from an Australian tertiary centre experience.

Con D et al.

Internal Medicine Journal, 2021

In the presence of autoantibodies and iron overload, do not judge a book by its cover: A case report.

Yazdali Koylu N et al.

Hepatology Forum, 2021

The Proteomics Study of Compounded HFE/TF/TfR2/HJV Genetic Variations in a Thai Family with Iron Overload, Chronic Anemia, and Motor Neuron Disorder.

Tippairote T et al.

Journal of Molecular Neuroscience : Mn, 2021

Lack of association of HFE gene polymorphism with high body iron status in Pakistani patients with type 2 diabetes mellitus.

Muhammad JS et al.

Jpma. the Journal of the Pakistan Medical Association, 2021

Low incidence of focal lesions in the thyroid glands of patients with hereditary haemochromatosis - a single-centre study from Poland.

Banaszkiewicz KJ et al.

Endokrynologia Polska, 2021

Impact of HFE gene variants on iron overload, overall survival and leukemia-free survival in myelodysplastic syndromes.

Schneeweiss-Gleixner M et al.

American Journal of Cancer Research, 2021

Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis.

Kristan A et al.

Frontiers in Genetics, 2021

Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis.

Ruan DD et al.

World Journal of Clinical Cases, 2020

H63D CG genotype of HFE is associated with increased risk of sporadic amyotrophic lateral sclerosis in a single population.

Zhang QQ et al.

Journal of Integrative Neuroscience, 2020

The Polygenic and Monogenic Basis of Blood Traits and Diseases.

Vuckovic D et al.

Cell, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."