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.
Juvenile hemochromatosis, also known as hemochromatosis type 2, is a rare form of hereditary hemochromatosis, which emerges in young individuals, typically between 15 and 30 years of age, but occasionally later. It is characterized by an inability to control how much iron is absorbed by the body, in turn leading to iron overload, where excess iron accumulates in many areas of the body and causes damage to the places it accumulates.It is a genetic disorder that can be caused by mutations in either the HJV (also called HFE2) or HAMP genes, and is inherited in an autosomal recessive fashion. Depending on which of these genes is affected, the disease can be further subdivided into types 2A and 2B. Signs and Symptoms
The most common symptoms of juvenile hemochromatosis are as follows:
Weakness
Lethargy
Hyperpigmentation (darkening of the skin)
Arthropathy (joint disease)
Diabetes
Heart disease (dilated cardiomyopathy). Complications of heart disease are the main cause of death in those with untreated hemochromatosis. Hypogonadism (reduced activity of the genitals), which may result in decreased libido and infertility
Amenorrhea in females
Erectile dysfunction in males
Loss of appetite
Increased risk of infection by certain bacteria including V. vulnificus.Other common complications include:

Congenital hepatic fibrosisLess common symptoms and complications include:

Osteoporosis
Hepatomegaly (liver enlargement)
Liver cirrhosis
Cardiac arrhythmias
Hypothyroidism
Adrenocortical insufficiency

Genetics
Juvenile hemochromatosis can be caused by inheriting two mutated copies (alleles), one from each parent, of the genes for the proteins hemojuvelin (HFE2/HJV) or hepcidin (HAMP), and the disease can be subdivided into hemochromatosis types 2A and 2B according to which gene/protein is affected.