Molecular testing of hemochromatosis is indicated for the diagnosis and definitive confirmation of hereditary hemochromatosis in adult patients, for the investigation of patients with elevated levels of transferrin saturation or elevated serum ferritin concentration as well as in relatives of patients with hereditary hemochromatosis.
Hereditary hemochromatosis is characterized by abnormally high absorption of iron by the gastrointestinal mucosa, resulting in excessive storage of iron in the liver, skin, pancreas, heart, joints, and testes. Initial symptoms of the disease include abdominal pain, weakness, lethargy, and weight loss. Untreated, male patients may develop symptoms between the ages of 40 and 60 years and female patients after menopause. Without treatment, the disease causes liver fibrosis or cirrhosis after the age of 40 years. Other findings in untreated patients may include a progressive increase in skin pigmentation, diabetes mellitus, congestive heart failure and arrhythmias, arthritis, and hypogonadism.
Diagnosis of hereditary hemochromatosis is usually based on results of pre-symptomatic screening tests such as transferrin saturation and serum iron and ferritin concentrations, while confirmatory tests include molecular genetic testing of C282D and H63F mutations in the HFE gene. Over 20 HFE gene mutations have been found, but about 87% of people of European origin with hereditary hemochromatosis are either homozygotes for the C282Y mutation or heterozygotes for the C282Y and H63D mutations.
A total of 12 mutations of the HFE gene are included: V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y and Q283P. Four (4) mutations of the TFR2 gene: E60X, M172K, Y250X, AVAQ594-597del, and 2 mutations of the FPN1 gene: N144X, V162del.
Laboratory test results are the most important parameter for the diagnosis and monitoring of all pathological conditions. 70%-80% of diagnostic decisions are based on laboratory tests. The correct interpretation of laboratory results allows a doctor to distinguish "healthy" from "diseased".
Laboratory test results should not be interpreted from the numerical result of a single analysis. Test results should be interpreted in relation to each individual case and family history, clinical findings, and the results of other laboratory tests and information. Your personal physician should explain the importance of your test results.
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