Article

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

2021-05-03

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...

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Literature Corpus work: e278b0de-1120-5bc7-831b-f0e8d332e220
DOI: 10.21203/rs.3.rs-487488/v1

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