Info

Growth demands, menstruation, pregnancy, diet, blood loss

Host factors

Alcohol intake, iron-loading diseases including thalassaemias, hepatic porphyrias, infections, non-alcoholic fatty liver, and viral hepatitis

Modifier genes <

Genes encoding hepcidin, hemojuve-lin, transferrin receptor 2, haptoglobin, hemogexin, ceruloplasmin, and heme oxygenase 1

Genes involved in antioxidant defence, fibrogenesis, and tissue repair

Non-HFE factors affecting phenotypic expression

Non-HFE factors affecting phenotypic expression

Proportion of C282Y

homozygotes expressing indicated abnormality

Proportion of C282Y

homozygotes expressing indicated abnormality

Figure 12.12 Stepwise progression of HFE-related haemochromatosis showing host factors and modifier genes, disease stages, and proportions of p.C282Y homozygotes with resulting abnormalities. Redrawn from Pietrangelo (2004), copyright 2004 Massachusetts Medical Society. All rights reserved.

Figure 12.12 Stepwise progression of HFE-related haemochromatosis showing host factors and modifier genes, disease stages, and proportions of p.C282Y homozygotes with resulting abnormalities. Redrawn from Pietrangelo (2004), copyright 2004 Massachusetts Medical Society. All rights reserved.

arise in a small minority of individuals homozygous for p.C282Y while the majority have only a benign biochemical derangement in iron homeostasis? The clinical significance of other mutations of HFE such as p.H63D remain unclear, although in a compound heterozygous state with p.C282Y a very small proportion of individuals may be predisposed to disease.

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