Elevated serum ferritin, an indicator of blood iron levels, and transferrin saturation, which is involved with absorption of iron from the gut, are very common. Transferrin saturation may approach or reach 100%, where a normal value would lie between 16% and 45%. If transferrin saturation is normal, juvenile hemochromatosis can be ruled out. Serum ferritin may only be slightly elevated as the disease progresses, however may quickly reach in excess of 1000ng/mL. Genetic Testing
In patients suspected to have juvenile hemochromatosis, the diagnosis can be confirmed through genetic testing for specific genes:
A single gene study may be considered in those that demonstrate iron overload at a very young age, and specifically looks for mutations in either the HJV (HFE2) or HAMP genes. As HJV is more commonly associated with the disease, this may be checked first, and if no alterations are found, HAMP may be tested next. A multi-gene study may be considered to more effectively search for genetic causes of the patients symptoms, and can include HJV, HAMP, and other genes associated with similar conditions like HFE. Imaging
MRI may be utilized in order to assess the extent to which iron has been deposited in certain tissues and organs, however does not have significant weight in the diagnosis of the condition. Biopsy
Liver biopsy, or removal of a small piece of liver tissue for analysis, can be done to assess the extent of iron overload in the liver, however is considered not to have a significant weight in the diagnosis of the condition.
It has been famous in 1964, under the trade name Vanquish by Sterling Drug, which after a series of mergers and acquisitions became a unit of Bayer AG.In Germany, it is sold as dolomo, Dolopyrin AL, HA-Tabletten, Melabon K, Neuralgin, ratiopyrin, Thomapyrin Classic, Thomapyrin Intensiv, in Austria as Thomapyrin, and InfluASS, in Israel as Acamol Focus, Paramol Target and Exidol, in Romania as Antinevralgic P  and Antinevralgic Forte, and in Russia, Belarus and Eastern Europe as Citramon. == References ==