What Is Juvenile Hemochromatosis?
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Juvenile Hemochromatosis - Causes, Symptoms, Diagnosis, and Treatment

Published on Nov 10, 2022 and last reviewed on Feb 21, 2023   -  5 min read


Hemochromatosis, a hereditary disorder, is the most common cause of iron excess. Learn more about this condition below.


Juvenile hemochromatosis is an uncommon genetic condition. Hereditary hemochromatosis (HH) is a kind of iron excess that is passed down the generations. The early development of excess iron buildup in numerous organs characterizes juvenile hemochromatosis. It can cause arthropathy by affecting the liver, heart, pancreas, and joints. Because of its early beginning, most instances of juvenile hemochromatosis have severe symptoms. The condition is characterized by cardiac and hypogonadism symptoms. Arthropathy is more common in juvenile hemochromatosis. Juvenile hemochromatosis can be diagnosed and treated early to avoid irreparable organ damage.

Laboratory tests (for increased transferrin saturation, serum iron, and ferritin levels), liver biopsy, imaging, or genotyping can all be used to make the diagnosis. Treatment for juvenile hemochromatosis is recommended when serum ferritin values are over the upper range of normal.

What Is Hereditary Hemochromatosis?

Hereditary hemochromatosis is a blood illness in which the body absorbs excessive amounts of iron from the consumed food. Iron is a mineral that may be found in a variety of foods. However, too much iron might be harmful to health.

An excess of iron is deposited in the organs and tissues of the body. The iron in the body accumulates over time (iron overload). It has the potential to harm tissues and organs. Iron overload in the heart, liver, pancreas, and pituitary can lead to serious complications.

Other kinds of hemochromatosis exist. They are as follows:

What Is Juvenile Hemochromatosis?

Juvenile hemochromatosisis an uncommon hereditary disorder that primarily affects teenagers and young adults between the ages of 15 and 30. It causes a serious iron overload. This can lead to heart and liver problems.

In children, there may be an increase in transferrin saturation and serum ferritin, as well as parenchymal iron deposition and liver fibrosis. Hypogonadism and heart disease manifest clinically before the age of 30. The illness normally progresses and, if left untreated, can lead to death due to heart failure. The severity and early onset of juvenile hemochromatosis show that the product of the gene plays a critical function in iron homeostasis control.

What Are the Causes of Juvenile Hemochromatosis?

  • Hemochromatosis is a hereditary disease that runs in families.

  • Children with hemochromatosis may be born with the disease if they inherit two hemochromatosis genes from each parent. If a person only has one of these genes, they are said to be a carrier of the gene. Mutations in the HJV and HAMP genes cause juvenile hemochromatosis. Juvenile hemochromatosis type 2A occurs when a child inherits two changed (or mutant) copies of HJV and no normal copy of the gene.

  • Hemojuvelin (HJV) controls iron absorption in the body by maintaining proper amounts of hepcidin. Each parent carries the HAMP gene, which encodes the protein hepcidin.

  • In order to prevent blood levels of iron from rising too high, hepcidin is responsible for regulating the absorption of iron from the small intestine into the bloodstream during digestion.

  • In the absence of functioning hepcidin, the body is unable to limit iron absorption once the appropriate level has been reached.

What Are the Indications of Juvenile Hemochromatosis?

Symptoms differ from person to person. Some common signs include:

  • Weakness and a lack of energy (lethargy).

  • Irritability.

  • Depression.

  • Joint discomfort.

  • The tint of the skin might be bronze or yellowish.

  • Hair loss all over the body.

  • Impotence in men is a common problem (absent or decreased function of the testes in males).

  • Not having a period due to decreased function of ovaries in women.

  • Infection.

Juvenile hemochromatosis that is left untreated or is severe can result in the following:

  • An enlarged liver and difficulties with liver function.

  • Liver (cirrhosis).

  • Heart rhythm that is abnormal.

  • Dysfunction of the heart.

  • Diabetes.

  • Swollen spleen.

How Could Juvenile Hemochromatosis Be Diagnosed?

This condition is usually diagnosed with a few simple tests. The physician will actually take a medical history after doing a physical examination. The following tests are also included:

  • Transferrin Saturation (TS) Test- This blood test determines how much iron is present in transferrin and other proteins.

  • Biopsy of Liver- A tiny sample of liver tissue or cells is taken and examined under a microscope.

  • Ferritin Levels Test- Ferritin is a kind of protein found in the bloodstream. It rises when the body's iron levels rise. It rises to the highest when iron levels are really high.

  • Genetic Testing- This blood test searches for hereditary hemochromatosis-causing gene mutations.

What Treatments Are Available for Juvenile Hemochromatosis?

With juvenile hemochromatosis illness, individuals can live a normal lifespan if the iron levels return to normal before any organs are destroyed. Treatment for this is identical to that for other types of hemochromatosis and iron overload, which primarily concentrates on lowering iron levels in the body to avoid iron overload problems.

The following treatments may be used:

  • Phlebotomy- This treatment involves the removal of blood from the body. Initially, this is done on a regular basis until the iron levels return to normal. Then, if required, it could be repeated once or twice yearly.

  • Chelation Therapy- It is a type of treatment that involves the use of medicine, which mainly includes the elimination of iron from the body.

  • Avoid Taking Iron and Vitamin C Supplements- Iron and vitamin C pills are not being taken as the amount of iron absorption can be increased by taking vitamin C.

  • Avoid excessive consumption of alcohol.

  • Complications of Hemochromatosis Are Treated- If the disease has progressed far enough, further therapies can be directed towards the disease's consequences, depending on which ones are present such as diabetes, heart, liver, hormonal, and joint problems.


Juvenile hemochromatosis is a rare hereditary condition that causes the body to absorb an excessive amount of iron from the consumed food. Surplus iron is retained in the tissues and organs of the body. It accumulates over time and can harm tissues and organs. Mutations in one of at least two genes cause juvenile hemochromatosis (the HJV and HAMP genes).

Lethargy and weakness, anger, anxiety, joint discomfort, yellowing complexion, and hair loss are among the early signs. These signs and symptoms are comparable to those of hereditary hemochromatosis. Juvenile hemochromatosis, if left untreated, can lead to life-threatening consequences. To lower iron levels, phlebotomy or chelation therapy must be included on a regular basis.

Last reviewed at:
21 Feb 2023  -  5 min read




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