URL path: Index page // Hereditary Hemochromatosis, Molecular Detection of 3 Mutations

Hereditary Hemochromatosis, Molecular Detection of 3 Mutations

Molecular screening of hemochromatosis is indicated for the diagnosis and definitive confirmation of hereditary hemochromatosis in adult patients, for the control of patients with elevated levels of transferrin saturation or elevated serum ferritin hemoglobin concentration as well as in syngeneic patients.

More information

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 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 screening tests such as transferrin saturation and serum iron and ferritin concentration, while confirmatory tests include molecular genetic testing of C282D and H63F mutants. 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.

The test of the 3 most common mutations of the HFE gene is included: H63D, S65C, and C282Y.

 

Important Note

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. 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.

At Diagnostiki Athinon we answer any questions you may have about the test you perform in our laboratory and we contact your doctor to get the best possible medical care.

Additional information
Share it