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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 PDFEarly 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.
Porphyria Cutanea Tarda in a Patient With Hereditary Hemochromatosis: A Complex Overlap Disorder.
Cureus
November 2024
Division of Hematology and Oncology, Sidney Health Center Cancer Care, Sidney, USA.
We present a case of a 34-year-old woman with a 12-week history of blistering skin lesions, ultimately diagnosed with co-existing porphyria cutanea tarda (PCT) and hereditary hemochromatosis (HH) due to a homozygous C282Y mutation. The patient's discovered genetic predisposition to iron overload played a key role in the development of clinically symptomatic PCT. Treatment with serial therapeutic phlebotomy was started, dramatically improving her symptomatic cutaneous disease, iron indices, and liver function tests.
View Article and Find Full Text PDFHereditary haemochromatosis: A review.
J R Coll Physicians Edinb
December 2024
Hepatology Department, York and Scarborough Teaching Hospitals NHS Foundation Trust.
Article Synopsis
- Hereditary haemochromatosis (HH) is a common genetic disorder in Northern Europeans, caused by mutations that lead to excessive iron absorption in the body, affecting various organs over time.
- Not everyone with the C282Y mutation develops HH, making early diagnosis crucial; however, most individuals may not show symptoms initially.
- Treatment typically involves venesection to reduce iron levels, which can alleviate symptoms and improve liver health, while those without mutations but showing liver iron overload may require further genetic testing.
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