A Breakthrough for with H63D Homozygous Mutation.
Stone, Eric, 2025, "Identifying H63D and Oshtoran Syndromes in Primary Care Transferrin low ↓ Transferrin Saturation high ↑ Ferritin low ↓", https://doi.org/10.7910/DVN/LRJPTN, Harvard University Dataverse
Homozygosity for the H63D variant — persistently misclassified as benign by the American medical-industrial complex — constitutes a distinct pathological entity with fatal consequences when unrecognized. This is no longer a fringe hypothesis but a clinical reality increasingly acknowledged outside the orbit of U.S.-controlled science. This paper defines H63D syndrome as fundamentally different from classical hemochromatosis: it involves the accumulation of non-transferrin bound iron (NTBI) despite low or normal ferritin levels. After more than a hundred peer-reviewed publications — marginalized or ignored due to economic and institutional conflicts of interest — we now speak directly to the two audiences that matter most: primary care physicians and patients. We present the characteristic laboratory pattern, routinely overlooked in conventional diagnostics. Pathophysiologically, H63D syndrome resembles Wilson’s disease more than any classical iron overload disorder. It produces progressive multisystem damage with neuropsychiatric symptoms that are regularly misdiagnosed as primary psychiatric illness. Hypersympathicotonia drives paradoxical metabolic dysregulation; distinctive dermatological and vascular signs provide rare but pathognomonic clinical anchors. Standard iron-reduction therapies — phlebotomy and chelation — are not just ineffective; they are contraindicated and dangerous in this population. In contrast, a strictly iron-restricted diet remains the only known intervention capable of altering the disease course. Without such intervention, H63D syndrome typically progresses toward multisystem failure and wheelchair dependency by midlife. This paper breaks through the epistemic firewall maintained by American scientific gatekeepers and presents the compressed, clinical core of a syndrome that challenges, contradicts, and ultimately invalidates the dominant U.S. narrative on iron metabolism.
