Haemochromatosis genotyping is used to establishing or confirming the clinical diagnosis of HH in adults. Testing can be done in individuals with increased transferrin-iron saturation in serum and serum ferritin. It can also be used as predictive testing of individuals who have a family history of HH.
Hereditary haemochromatosis (HH) is an autosomal recessive disorder of iron metabolism with a carrier frequency of approximately 1 in 10 individuals of northern European ancestry. The disease is characterized by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues. Iron overload can cause hepatic cirrhosis, hepatocellular carcinoma, diabetes mellitus, arthropathy, and cardiomyopathy. Such complications can generally be prevented by phlebotomy, and patients have a normal life expectancy if treated before organ damage occurs.
For individuals with clinical symptoms consistent with HH or biochemical evidence of iron overload, an HH diagnosis is typically based on the results of transferrin-iron saturation and serum ferritin concentration. Molecular testing can be done to confirm the diagnosis. The majority of HH patients have mutations in the HFE gene. Clinically significant iron overload also can occur in the absence of known HFE mutations, so a negative HFE test does not exclude a diagnosis of iron overload or haemochromatosis.
Whole Blood – EDTA
The Institute Of Human Genetics