Report highlights challenges in laboratory diagnostics for H63D syndrome and Oshtoran syndrome, indicating potential for clinical error.
H63D syndrome is a distinct clinical phenotype based on a homozygous mutation of the HFE gene and is not hemochromatosis from which it is to be distinguished from hemochromatosis, as the underlying pathology lies not in ferritin-bound iron overload but in the formation of non-transferrin-bound iron (NTBI) causing the creation and irrevocable formation of highly toxic NTBI which triggers oxidative microinflammatory processes, particularly in the substantia nigra, the basal ganglia, and parenchymal tissues, with a broad spectrum of neurological, cardiac, hepatic, endocrine, and immunological manifestations. (1) A hitherto rarely systematically addressed dimension of this challenge has now been highlighted at the H63D Conference 2026.
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Diamandis et al. (2026) studied this question.
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