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A decade of iron overload disorders and hemochromatosis: clinical and genetic findings from a specialized center in Colombia.
Front Med (Lausanne)
December 2024
One Health Research Group, Univerisdad de las Americas, Quito, Ecuador.
Background: Iron overload disorders, including hereditary hemochromatosis (HH), are characterized by excessive iron accumulation, which can cause severe organ damage. HH is most associated with the C282Y mutation in Caucasian populations, but its prevalence and genetic profiles in Latin American populations remain underexplored.
Objectives: To describe the clinical manifestations, genetic profiles, and biochemical characteristics of patients with suspected iron overload disorders in a specialized hematology center in Cali, Colombia.
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.
Novel loci and biomedical consequences of iron homoeostasis variation.
Commun Biol
December 2024
BHF Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Iron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.
View Article and Find Full Text PDFHypoparathyroidism in adults with iron overload diseases (IOD): evidence of a subclinical phenotype.
Endocrine
December 2024
Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy.
Purpose: To explore the prevalence of hypoparathyroidism (HPT), overt and subclinical, in a cohort of adults with Iron Overload Diseases (IOD). Secondary aim was to test the calcium (Ca)-to-phosphorus (P) ratio performance in identifying HPT.
Methods: Single-center, prospective, case-control study.
[Analysis of clinical, gene mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis in the Chinese population].
Zhonghua Gan Zang Bing Za Zhi
November 2024
Liver Research Center, Beijing Friendship Hospital, Capital Medical University, Beijing100050, China National Clinical Research Center for Digestive Diseases, Beijing100050, China.
To analyze the clinical, genetic mutation characteristics, and treatment prognosis of type 2A hereditary hemochromatosis (HH) in China. Peripheral blood samples and clinical data of patients with primary iron overload were collected through the China Registry of Genetic/Metabolic Liver Disease from June 2015 to November 2023. HH-related genes were detected by Sanger sequencing.
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