Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00277-008-0532-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Mortality and risk of diabetes, liver disease, and heart disease in individuals with haemochromatosis C282Y homozygosity and normal concentrations of iron, transferrin saturation, or ferritin: prospective cohort study.
BMJ
December 2024
Danish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark
Objectives: To test whether haemochromatosis C282Y homozygotes have increased risk of diabetes, liver disease, and heart disease even when they have normal plasma iron, transferrin saturation, or ferritin concentrations and to test whether C282Y homozygotes with diabetes, liver disease, or heart disease have increased mortality compared with non-carriers with these diseases.
Design: Prospective cohort study.
Setting: Three Danish general population cohorts: the Copenhagen City Heart Study, the Copenhagen General Population Study, and the Danish General Suburban Population Study.
Diagnosis and management of hereditary hemochromatosis: lifestyle modification, phlebotomy, and blood donation.
Hematology Am Soc Hematol Educ Program
December 2024
Department of Medicine, University of Verona and EuroBloodNet Referral Center for Iron Disorders, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.
The term hemochromatosis refers to a group of genetic disorders characterized by hepcidin insufficiency in the context of normal erythropoiesis, iron hyperabsorption, and expansion of the plasma iron pool with increased transferrin saturation, the diagnostic hallmark of the disease. This results in the formation of toxic non-transferrin-bound iron, which ultimately accumulates in multiple organs, including the liver, heart, endocrine glands, and joints. The most common form is HFE-hemochromatosis (HFE-H) due to p.
View Article and Find Full Text PDFRe-evaluating the utility of iron indices in hereditary hemochromatosis genotyping: A retrospective study.
Clin Biochem
November 2024
Division of Clinical Chemistry, Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
Article Synopsis
- Hereditary hemochromatosis (HH) is the most prevalent genetic disorder in Canada, primarily due to C282Y homozygosity, leading to iron overload and potential organ damage, but with low penetrance.
- The study examined 23,432 individuals for TSat and ferritin levels as indicators of C282Y homozygosity, finding that C282Y homozygotes had significantly higher median levels compared to other genotypes.
- TSat was identified as the most effective predictor of C282Y homozygosity, with specific thresholds that could greatly reduce unnecessary genotyping and save costs in healthcare management.
[Hyperferritinemia - investigation, diagnosis and treatment].
Lakartidningen
October 2024
adjungerad professor, överläkare, ME övre buk, Karolins-ka universitetssjukhuset Huddinge.
Ferritin is one of the most requested blood tests in both primary and inpatient care, and high values occur frequently. One of the greatest challenges in the investigation of hyperferritinemia is to determine if there is a presence of iron overload. Patient history (chronic liver disease, excessive alcohol consumption, hereditary factors), clinical features (metabolic syndrome, acute or chronic inflammation, infection, malignancy) and biochemical tests (ferritin, transferrin saturation, hemoglobin, liver enzymes, CRP/SR, phosphatidyl ethanol, lipid profile, glucose) facilitate the determination of the cause of hyperferritinemia.
View Article and Find Full Text PDFIntroduction: Heart failure (HF) is a clinical syndrome characterized by cardinal symptoms that may be accompanied by signs. It results from structural and/or functional abnormalities of the heart leading to elevated intracardiac pressures and/or inadequate cardiac output at rest and/or during exercise. The prevalence of iron deficiency and anemia justifies the current guidelines recommendation of screening.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!