Article

H63D Syndrome: A rare clinical phenotype caused by a homozygous mutation of HFE gene H63D

2021-05-03

Abstract excerpt

H63D syndrome is a unique phenotype (clinical picture) of a homozygous mutation of the HFE gene H63D, which is otherwise known to cause at most mild classical hemochromatosis. H63D syndrome is associated with iron overload in the body (especially in the brain, heart, liver, skin and male gonads), but in the form of non-transferrin bound iron (NTBI), not as ferritin. It is an incurable multi-organ disease, leading...

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Literature Corpus work: 7ec9220a-8321-53e3-a5f1-93bfdfb03eea
DOI: 10.22541/au.162005462.20241654/v1

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