Hereditary hemochromatosis is a rare iron overload disorder. Genetic mutations impair the control of the intestine’s absorption of iron from foods during digestion and alter the distribution of iron to various parts of the body. As a result, it leads to increased accumulation of iron in various tissues and it can lead to liver cirrosis, diabetes, cardiomyopathy and hypogonadotropic hypogonadism.
According to the gene that is mutated, hemochromatosis is divided in 4 different types, which vary in clinical severity and onset of disease.
Α) Classical hemochromatosis type 1 (HFE gene),
Β) Juvenile hemochromatosis type 2 (HJV gene),
C) Hemochromatosis type 3 (TFR2 gene) and
D) Hemochromatosis type 4 (FPN gene).
The amalysis includes the most common mutations that are associated to the development of hemochromatosis, detected by multiplex PCR and reverse hybridisation. The detected mutations are: 12 mutations in HFE gene (V53M, V59M, H63D, H63H, S65C, Q127H, P160delC, E168Q, E168X, W169X, C282Y, Q283P), 4 mutations in TFR2 gene (E60X, M172K, Y250X, AVAQ594-597del) and 2 mutations in FPN1 gene (N144H, V162del).
Furthermore the G320V mutation in HJV gene, the most frequent mutation of juvenile hemochromatosis, is detected by targeted Sanger sequencing.
Sample type: Peripheral blood in EDTA
Time to result: 2 weeks
Please note the patient’s age, ferritin and iron levels and transferrin saturation values if available.
Upon negative results or other clinical indication, complete analysis of HJV gene through Sanger sequencing is available as an additional test.