haemochromatosis
Differences
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| haemochromatosis [2023/11/16 22:31] – [Clinical features of adult form] gary1 | haemochromatosis [2026/08/07 00:46] (current) – [Aetiology] gary1 | ||
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| * others have a milder form due to either homozygous H63D mutation or C232Y/H63D compound heterozygous mutation | * others have a milder form due to either homozygous H63D mutation or C232Y/H63D compound heterozygous mutation | ||
| * transferrin receptor 2 (TfR2) | * transferrin receptor 2 (TfR2) | ||
| + | * gain of function mutation in TPCN1 gene resulting in excessive activity of TPC1 ion channels may be a risk factor | ||
| + | * TCP1 activity influences both the absorption of iron from the plasma membrane and the pH value in endosomes that release iron into the cytosol based on pH value(([[https:// | ||
| *more severe juvenile onset haemochromatosis: | *more severe juvenile onset haemochromatosis: | ||
| * mutation of genes encoding either: | * mutation of genes encoding either: | ||
haemochromatosis.txt · Last modified: 2026/08/07 00:46 by gary1