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• W3204366507 abstract "Background: Beta-thalassemia carriers (βTc) can develop iron overload (IO), although infrequently. Traditional risk factors (alcohol abuse or liver diseases) usually contribute, but sometimes IO remains unexplained. Hepcidin suppression and associated IO in βT major and intermedia is, at least in part, dependent on the increased production of the hormone erythroferrone (ERFE), but the role of ERFE in βTc remains to be explored. Aims: The aim of the study was to evaluate the factors involved in hepcidin suppression in βTc with iron overload. Methods: We characterized βTc patients (n = 22, mean age 57 ± 10 yrs; 73% males) referred to our center because of clinically relevant IO (mean ferritin 1115 ng/ml, CI95% 864–1437), confirmed by MRI and/or liver biopsy. In addition to clinical evaluation, we measured serum hepcidin, EPO, sTfR and ERFE, and performed Next Generation Sequencing (NGS) analysis of a customized panel of genes related to IO. Results: Alcohol abuse was the main explanation for IO in 32% of cases. NGS identified 4 patients with HFE-hemochromatosis (HH) and 1 patient with a novel heterozygous mutation in BMP6. In 7 subjects we did not identify any single strong risk factor, but noted moderate alcohol consumption, the H63D variant in HFE, and/or some features of the metabolic syndrome. Most subjects (73%) had high or high-normal serum hepcidin (mean 11 nmol/l, CI95% 8–16), however, the hepcidin/ferritin ratio indicated a relative hepcidin suppression. Serum ERFE levels (mean 34 ng/ml, CI95% 21–55) were intermediate between healthy blood donors and βT major. Excluding patients with HH, we observed an inverse correlation between hepcidin and ERFE (β-coeff. −0.576; p = 0.019). As expected, ERFE concentration strongly correlated with markers of erythropoietic activity: EPO (R = 0.693; p = 0.001) and soluble transferrin receptor (R = 0.716; p = 0.001). Summary/Conclusion: IO in βTc represents a neglected condition. Mild ERFE-mediated hepcidin suppression could be aggravated by low-risk co-factors, such as H63D variant. Further investigations are needed to understand the role of individual factors involved in the development of IO in βTc." @default.
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• W3204366507 date "2019-06-01" @default.
• W3204366507 modified "2023-09-27" @default.
• W3204366507 title "PS1295 IRON IN THE HUMAN HEARTS: DISTRIBUTION AND ASSOCIATION WITH R2∗ VALUES BY CMR" @default.
• W3204366507 doi "https://doi.org/10.1097/01.hs9.0000563460.48398.84" @default.
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