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. 2019 Aug 22;149(12):2085–2100. doi: 10.1093/jn/nxz172

TABLE 1.

Mouse models of HH and comparison with the human disease1

Human HH type (mutant gene) Mouse model Mouse phenotype Human phenotype References
Type 1 (HFE) Hfe −/− Hfe C282Y/C282Y Hfe C282Y/H63D Decreased hepcidin, elevated TSAT, increased body iron (liver), increased intestinal Fe absorption, cardiac hypertrophy; no hepatic fibrosis or cirrhosis Adult-onset; liver disease usually predominates, but endocrine disorders, cardiac problems, and joint disease also occur (55–58)
Type 2A (HJV) Hjv −/− Decreased hepcidin, elevated TSAT, increased body iron (liver, pancreas, heart), splenic iron sparing; do not develop diabetes or cardiomyopathy Juvenile-onset; cardiomyopathy and endocrinopathies predominate; parenchymal iron accumulation in liver (59, 60)
Type 2B (HAMP) Hamp1 −/− No hepcidin, increased body iron (liver, pancreas, heart), splenic iron sparing, centrolobular accumulation of liver iron Juvenile-onset; similar to Type 2A (61, 62)
Type 3 (TFR2) Tfr2 −/− Decreased hepcidin, elevated TSAT, increased hepatic iron, splenic iron sparing Adult-onset; similar to Type 1 (63, 64)
Type 4 (SLC40A1; encoding FPN1) Fpn ffe Iron loading in hepatic Kupffer cells, high serum ferritin, low TSAT “Ferroportin disease”; macrophage iron trapping, low TSAT, anemia (65)
1

ffe, Flatiron; FPN, ferroportin 1; HAMP, hepcidin antimicrobial peptide gene; HFE, homeostatic iron regulator; HH, hereditary hemochromatosis; HJV, hemojuvelin; SLC, solute carrier; TFR, transferrin receptor; TSAT, transferrin saturation.