Some type of change is needed because “Mutations of HFE lead to reduced iron uptake” is incorrect, specifically reduced iron uptake because that’s the opposite of what’s occurring in hereditary hemochromatosis.
AMBOSS pathophysiology
“HFE gene defect (homozygous) → defective binding of transferrin to its receptor → ↓ hepcidin synthesis by the liver → unregulated ferroportin activity in enterocytes → ↑ intestinal iron absorption → iron accumulation throughout the body → damage to the affected organs”
I suggest changing to this.
“Mutations of HFE lead to defective binding of transferrin with its receptor causing abnormal iron sensing and enhances iron accumulation in two ways:”
Current version is virtually word-for-word from UW Step 1 QID 393. Need to reconcile, but would not change entirely.
I think the current proposed edit is fine
@anking-maintainers bump