Earliest phenotypic manifestation of Idiopathic hereditary hemochromatosis is
Investigations in Primary Haemochromatosis Serum iron studies show a greatly increased ferritin, a raised plasma iron and saturated plasma iron-binding capacity. The serum iron level and percent saturation of transferrin are elevated early in the course, but their specificity is reduced by significant false-positive and false-negative rates. For example, serum iron concentration may be increased in patients with alcoholic liver disease without iron overload; in this situation, however, the hepatic iron index is usually not increased as in hemochromatosis (Table 407-1). In otherwise healthy persons, a fasting serum transferrin saturation >45% is abnormal and suggests homozygosity for hemochromatosis. Transferrin saturation of more than 45% is suggestive of iron overload. Significant liver disease is unusual in patients with ferritin lower than 1000 mg/L (100 mg/dL). The differential diagnoses for elevated ferritin are inflammatory disease or excess ethanol consumption for modest elevations (< 1000 mg/L (100 mg/dL). Very significant ferritin elevation can be seen in adult Still's disease. In terms of imaging techniques, MRI has high specificity for iron overload but poor sensitivity. Liver biopsy allows assessment of fibrosis and distribution of iron (hepatocyte iron characteristic of haemochromatosis). The Hepatic Iron Index (HII) provides quantification of liver iron (mmol of iron per g dry weight of liver/age in years). An HII of more than 1.9 suggests genetic haemochromatosis . Both the C282Y and the H63D mutations can be identified by genetic testing, which is now in routine clinical use . Ref Davidsons 23e p895 , Harrison 20e p2980
Post prandial increase in serum iron concentration
Elevated serum ferritin level
Slate grey pigmentation of skin
Increased transferrin saturation
Immune system