Haemochromatosis, Type 4

What is haemochromatosis, type 4?

Similar to other types of haemochromatosis, type 4 causes excess storage of iron in the body's tissues and organs, particularly the liver. Type 4 haemochromatosis is characterised by a dominant inheritance pattern, which means the disorder is found in each generation of a family.

Haemochromatosis, type 4 is a subtype of haemochromatosis.

The signs and symptoms of type 4 haemochromatosis are similar to those of other haemochromatosis disorders and can include joint pain, fatigue, decreased production of sex hormones, and liver disease. A distinguishing feature of type 4 haemochromatosis is the early accumulation of iron in specialized cells called reticuloendothelial cells within the liver, spleen, and bone marrow. Also, compared to individuals with other types of haemochromatosis, people with type 4 have normal or closer-to-normal values for serum transferrin saturation, a blood test which indicates the amount of iron carried in the bloodstream.

How common is haemochromatosis, type 4?

The disorder is considered rare, but it has been described in several different ethnic groups.

What genes are related to haemochromatosis, type 4?

Mutations in the SLC40A1 gene cause haemochromatosis, type 4.

The SLC40A1 gene normally makes a protein called ferroportin, which plays a role in iron transport. Mutations in this gene alter the function of ferroportin, which leads to an imbalance in iron distribution and an increase in iron accumulation.

How do people inherit haemochromatosis, type 4?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

What other names do people use for haemochromatosis, type 4?

  • ferroportin disease
  • Haemochromatosis, autosomal dominant

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