Mutations of the HJV gene, which maps on chromosome 1q21, underlie most cases of juvenile hemochromatosis. We evaluated the frequency of the most common mutation (G320V) of the HJV gene in the Greek population, since 50% of cases of hereditary hemochromatosis in Greece carry mutations of the HJV gene.
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Br J Haematol
December 2024
Department of Biological Haematology, Montpellier University Hospital, Montpellier, France.
Non-transfusional iron overload (IOL) in hereditary spherocytosis (HS) is poorly documented compared with other red blood cell disorders. We studied 13 HS adults with confirmed IOL to identify potential genetic factors. Using a next-generation sequencing panel of 46 genes related to HS, anaemia and iron metabolism, we found no association between IOL and the genes involved in HS nor the HFE:p.
View Article and Find Full Text PDFZhonghua 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.
View Article and Find Full Text PDFJCEM Case Rep
November 2024
Department of Endocrinology Diabetes and Clinical Nutrition, Oregon Health Sciences University, Portland, OR 97239, USA.
Nutrition
January 2025
Institute of Human Nutrition and Dietetics, Poznań University of Life Sciences, Poznań, Poland.
Cureus
July 2024
Internal Medicine, Universidad Nacional Autonoma de Mexico, Mexico City, MEX.
This study provides a comprehensive overview of hereditary hemochromatosis (HH), a genetic condition characterized by iron overload due to excessive iron absorption. It elucidates diverse inheritance patterns and clinical manifestations by exploring mutations in critical genes such as HFE (hemochromatosis), HJV (hemojuvelin), HAMP (hepcidin antimicrobial peptide), TfR2 (transferrin receptor 2), and FP (ferroportin). The significance of early screening, diagnosis, and personalized management strategies based on genetic classification is emphasized, particularly in terms of high-income vs.
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