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Browsing by Subject "Hemochromatosis"
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Item Genome-wide association study of serum iron phenotypes in premenopausal women of European descent(Elsevier, 2016-03) Koller, Daniel L.; Imel, Erik A.; Lai, Dongbing; Padgett, Leah R.; Acton, Dena; Gray, Amie; Peacock, Munro; Econs, Michael J.; Foroud, Tatiana; Department of Medical & Molecular Genetics, IU School of MedicineA genome-wide association study was performed in 1,130 premenopausal women to detect common variants associated with three serum iron-related phenotypes. Total iron binding capacity was strongly associated (p=10−14) with variants in and near the TF gene (transferrin), the serum iron transporting protein, and with variants in HFE (p= 4×10−7), which encodes the human hemochromatosis gene. Association was also detected between percent iron saturation (p=10−8) and variants in the chromosome 6 region containing both HFE and SLC17A2, which encodes a phosphate transport protein. No significant associations were detected with serum iron, but variants in HFE were suggestive (p=10−6). Our results corroborate prior studies in older subjects and demonstrate that the association of these genetic variants with iron phenotypes can be detected in premenopausal women.Item Hereditary haemochromatosis discovered after COVID-19 hospitalisation(BMJ, 2023-09-12) Hall, Zachary; Manlove, Emily; Medicine, School of MedicineCOVID-19 infection and hereditary haemochromatosis (HH) have something in common; the disease course can be monitored with ferritin levels. Throughout the pandemic, physicians have looked for markers to help predict disease severity. Ferritin levels are commonly used to predict and monitor disease severity in hospitalised patients with COVID-19. While ferritin is elevated as part of the acute-phase reaction in response to infection, it can also be elevated due to iron overload. We report a case of undiagnosed, asymptomatic HH that was unveiled after COVID-19 infection via monitoring for resolution of ferritin levels that were found to be extremely elevated during a moderate COVID-19 infection. This diagnosis allowed the patient to initiate phlebotomy treatment before symptoms of HH arose.