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Iron Overload in Histidine-to-Aspartic Acid Substitution at 63 (H63D) Gene Heterozygous Hereditary Hemochromatosis With Erythrocytosis: A Case Report.
Cureus
December 2024
Internal Medicine, National Hospital of Sri Lanka, Colombo, LKA.
Hereditary hemochromatosis occurs due to genetic mutations, namely, cysteine-to-tyrosine substitution at amino acid 282 (C282Y) and histidine-to-aspartic acid substitution at 63 (H63D) mutations. The role of H63D mutation in hemochromatosis is less clear, and its penetrance is low even in homozygotes. Therefore, iron overload in H63D heterozygotes is extremely rare and scarcely reported.
View Article and Find Full Text PDFDirect assessment of hereditary hemochromatosis in preimplantation genetic testing.
F S Sci
December 2024
Orchid Health, Laboratory Department, Durham, North Carolina. Electronic address:
Objective: Hereditary hemochromatosis (HH) is a common genetic disorder characterized by iron overload, which, if undiagnosed, can lead to severe organ damage. There are 4 types of HH. Type 1 HH, the most common form, is primarily caused by a common variant in Western Europe (p.
View Article and Find Full Text PDFMortality 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.
Early Onset of Wilson's Disease and Possible Role of Disease-Modifying Genes: A Case Report and Literature Review.
Case Reports Hepatol
November 2024
Paediatric Gastroenterology and Digestive Endoscopy Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Wilson's disease (WD) is a rare autosomal recessive disorder caused by mutations in the ATP7B gene, resulting in copper accumulation. Symptoms rarely appear before the age of 5, almost never before 3. The phenotypic variability of WD suggests the presence of modifying factors, making early diagnosis challenging.
View Article and Find Full Text PDFRe-evaluating the utility of iron indices in hereditary hemochromatosis genotyping: A retrospective study.
Clin Biochem
January 2025
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.
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