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Diagnosis is based upon identification of symptoms, medical history, family history, and laboratory tests. Blood tests may show high levels of ferritin and low, normal, or high levels of transferrin saturation, depending on the form of hemochromatosis. The diagnosis must be confirmed by genetic testing for SLC40A1 mutations. [14]
Haemochromatosis is protean in its manifestations, i.e., often presenting with signs or symptoms suggestive of other diagnoses that affect specific organ systems.Many of the signs and symptoms below are uncommon, and most patients with the hereditary form of haemochromatosis do not show any overt signs of disease nor do they have premature morbidity, if they are diagnosed early, but, more ...
The Genetic Testing Registry provides information about genetic tests for haemochromatosis type 3. There are 62 different clinical tests available including two biochemical Genetics tests and 60 molecular genetics tests. There is also one research test available. [citation needed] Clinical tests Biochemical genetics tests (2) Enzyme assay (2)
Iron overload (also known as haemochromatosis or hemochromatosis) is the abnormal and increased accumulation of total iron in the body, leading to organ damage. [1] The primary mechanism of organ damage is oxidative stress, as elevated intracellular iron levels increase free radical formation via the Fenton reaction.
Additionally, testing for common risk factors such as hepatitis C and hemochromatosis is strongly suggested, as their high prevalence in patients with PCT may require additional treatment. If clinical appearance of PCT is present, but laboratories are negative, the diagnosis of pseudoporphyria should be seriously considered. [citation needed]
Typically, laboratory tests show an excessive and static transferrin saturation based on a relative deficiency of transferrin. The transferrin value is pre- and postprandial static low. Thus, the body does not respond to nutritive iron supplementation by providing more transferrin.
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