Juvenile hemochromatosis

Juvenile hemochromatosis
Synonyms	Type 2 hemochromatosis, Hereditary hemochromatosis type 2
Pronounce	N/A
Specialty	N/A
Symptoms	Fatigue, Arthralgia, Diabetes mellitus, Hypogonadism, Cardiomyopathy, Liver cirrhosis
Complications	Heart failure, Liver failure, Diabetes mellitus, Hypogonadism
Onset	Typically between ages 10 and 30
Duration	Chronic
Types	N/A
Causes	Mutations in the HJV or HAMP genes
Risks	Family history of the condition
Diagnosis	Serum ferritin test, Transferrin saturation test, Genetic testing
Differential diagnosis	Adult-onset hemochromatosis, Wilson's disease, Porphyria cutanea tarda
Prevention	N/A
Treatment	Phlebotomy, Chelation therapy
Medication	Deferoxamine, Deferasirox
Prognosis	Variable, depends on early diagnosis and treatment
Frequency	Rare
Deaths	N/A

Juvenile hemochromatosis is a rare, severe form of hemochromatosis, a group of diseases characterized by excessive accumulation of iron in the body. It is also known as type 2 hemochromatosis or juvenile-onset hemochromatosis.

Symptoms

The symptoms of juvenile hemochromatosis usually appear in adolescence or early adulthood and include fatigue, weight loss, and joint pain. Other symptoms may include heart disease, diabetes, and hypogonadism, a condition in which the body produces little or no sex hormones.

Causes

Juvenile hemochromatosis is caused by mutations in the HFE2 gene. This gene provides instructions for making a protein that plays a crucial role in controlling the absorption, transport, and storage of iron in the body. Mutations in the HFE2 gene disrupt the normal regulation of iron balance, leading to excessive iron accumulation in tissues and organs.

Diagnosis

Diagnosis of juvenile hemochromatosis is based on clinical symptoms, family history, and laboratory tests that measure iron levels in the body. Genetic testing can confirm the diagnosis.

Treatment

Treatment for juvenile hemochromatosis involves removing excess iron from the body, a process known as phlebotomy. In severe cases, organ transplantation may be necessary.

See also

• Hemochromatosis
• Iron overload
• HFE2 gene

External links

• Juvenile Hemochromatosis at Genetics Home Reference
• Juvenile Hemochromatosis at GeneReviews