Hereditary hemochromatosis has been traditionally defined as an inherited disorder characterized by inappropriately high absorption of dietary iron, which leads to abnormal accumulation of iron in parenchymal organs. In 1996, the HFE gene was isolated on chromosome 6. Since this finding hereditary hemochromatosis has been defined by some as the presence of a homozygous defect in the HFE gene with direct or indirect evidence of iron overload.
Traditional Diagnostic Criteria for Hereditary Hemochromatosis
A- Observation of elevated transferrin saturation >60% on at least 2 occasions in the absence of other known causes of elevated transferrin saturation
B- Diagnosis of iron overload: 1 plus 2, or 1 plus 3, below
1. Elevated serum ferritin not explained by another cause
2. Increased hepatic iron by either a or b, below
a- Increased stainable hepatocellular iron (Scheuer grade 3 or 4)
b- Increased hepatic iron concentration (>80 µmmol/g) and hepatic iron index (>1.9)
3. Increased mobilizable iron (removal of 4 g of iron without development of iron-limited erythropoiesis)
References:
- Hash RB. Hereditary hemochromatosis. J Am Board Fam Pract. 2001 Jul-Aug;14(4):266-73. [Medline]
- Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology. 2010 Aug;139(2):393-408. [Medline]
Created Jun 18, 2011
