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Article

Clinical characteristics of HFE C282Y/H63D compound heterozygotes identified in a specialty practice: key differences from HFE C282Y homozygotes.

Expert review of hematology - 1 Jan 2024

Singal Mukul, Mahmoud Amir, Phatak Pradyumna Dinkar

Abstract excerpt

BACKGROUND: Patients with p.C282Y homozygous (p.C282Y) HFE mutations are more likely to develop hemochromatosis (HC) than p.C282Y/p.H63D compound heterozygotes (p.C282Y/H63D). RESEARCH DESIGN AND METHODS: We conducted a retrospective chart review of 90 p.C282Y and 31 p.C282Y/H63D patients at a referral practice to illustrate the differences in the natural history of the disease in these two HC cohorts. RESULTS:...

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Source

Identifiers

PMID: 38551816
DOI: 10.1080/17474086.2024.2337950

Genes

HFE

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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