Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype.

Autor:	Barton JC; Department of Medicine, University of Alabama at Birmingham, Birmingham, USA., Barton JC; Southern Iron Disorders Center, Brookwood Baptist Medical Center, Birmingham, USA., Acton RT; Department of Microbiology, University of Alabama at Birmingham, Birmingham, USA.
Jazyk:	angličtina
Zdroj:	Cureus [Cureus] 2023 Dec 06; Vol. 15 (12), pp. e50043. Date of Electronic Publication: 2023 Dec 06 (Print Publication: 2023).
DOI:	10.7759/cureus.50043
Abstrakt:	Background Characteristics of cohorts of individuals aged ≤17 years with homeostatic iron regulator ( HFE ) p.C282Y (rs1800562) homozygosity, a common hemochromatosis genotype, have not been reported. Methodology We retrospectively tabulated characteristics of white individuals aged ≤17 years with p.C282Y homozygosity. Individuals were not recruited for this study. We defined transferrin saturation (TS) >45%, serum ferritin (SF) >300 µg/L (M) and >200 µg/L (F) as elevated and liver iron grade 3 or 4, hepatic iron index >1.9 µmol Fe/g dry weight liver/y, and phlebotomy-mobilized iron >1.0 g (M) and >0.3 g (F) as increased. Results There were nine males and six females with a mean age of 12 ± 4 years (range = 5-17 years). The mean age of 10 probands (13 ± 3 years) was greater than that of five individuals discovered in family studies (9 ± 4 years) (p = 0.0403). Presenting manifestations of probands included fatigue/lethargy (5), elevated TS (2), and polycystic ovary syndrome, amenorrhea, and diabetes (2). In 15 individuals, the mean TS was 65 ± 23%. TS was elevated in 11 (73.3%) individuals aged 5-17 years. In 14 individuals, the mean SF was 262 ± 289 µg/L. SF was elevated and liver and phlebotomy-mobilized iron were increased in two male and three female probands aged 13-16 years (5/14 individuals, 35.7%). No individual had advanced hepatic fibrosis, arthropathy, hypogonadism, cardiomyopathy, or hyperpigmentation. Conclusions We conclude that five individuals aged 13-16 years (5/14 individuals, 35.7%) had increased liver and phlebotomy-mobilized iron. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Barton et al.)
Databáze:	MEDLINE
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