Incidence of a clinically relevant H63D syndrome in carriers of a homozygous mutation of HFE gene H63D

Abstract excerpt

H63D syndrome is a phenotype of a homozygous mutation of the HFE gene H63D, which is otherwise known to cause at most mild classical hemochromatosis. H63D syndrome leads to an iron overload in the body (especially in the brain, heart, liver, skin and male gonads) in the form of non-transferrin bound iron (NTBI) poisoning. Hallmark symptoms and causal factor for H63D syndrome is a mild hypotransferrinemia with tran...

Topics

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• Chi-Square Distribution
• Hemochromatosis
• Hemochromatosis Protein
• Histocompatibility Antigens Class I
• HLA Antigens
• Iron Overload
• Newfoundland and Labrador
• Probability

Identifiers and source

Literature Corpus work

e278b0de-1120-5bc7-831b-f0e8d332e220

DOI

10.21203/rs.3.rs-487488/v1