Haemochromatosis, Type 2

What is haemochromatosis, type 2?

All disorders described as haemochromatosis cause the body to store too much iron. In haemochromatosis, type 2, which is also called juvenile haemochromatosis, iron accumulation begins early in life, and symptoms are present before the age of 30 years. Men and women are affected equally.

Haemochromatosis, type 2 is a subtype of haemochromatosis.

The signs and symptoms of juvenile haemochromatosis are similar to those of the adult types of the disorder, but iron accumulation begins early in life and is rapid. Abdominal discomfort or pain is the primary complaint in the first decade of life. Nonspecific symptoms such as weakness, fatigue, weight loss, and nausea are also present in early stages of the disorder. A grey-brownish skin discolouration can also be present in early childhood. By the age of 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or sex hormone deficiency symptoms such as impotence. If the disorder is untreated, heart disease is evident by age 30. Heart failure or disturbances of heart rhythm are usually the cause of death if the disease is not treated. Liver damage and diabetes are less frequent than in type 1 haemochromatosis.

How common is haemochromatosis, type 2?

The disease is very rare compared to type 1 haemochromatosis, but it has been reported in several different ethnic groups.

What genes are related to haemochromatosis, type 2?

Mutations in the HAMP and HFE2 genes cause haemochromatosis, type 2.

The HAMP and HFE2 genes appear to play a role in regulating iron absorption during digestion. When these genes are altered, iron absorption is not properly controlled and too much iron is absorbed. The excess iron is stored in organs and tissues, which can lead to organ damage.

How do people inherit haemochromatosis, type 2?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for haemochromatosis, type 2?

  • HEF2A
  • HEF2B
  • Haemochromatosis, juvenile
  • JH

© Medic8 ® All Rights Reserved.