Haemochromatosis type 3

Haemochromatosis type 3
Synonyms	TFR2-related hereditary haemochromatosis
Pronounce	N/A
Specialty	N/A
Symptoms	Fatigue (medical), Arthralgia, Diabetes mellitus, Hypogonadism, Cardiomyopathy, Skin pigmentation
Complications	Cirrhosis, Hepatocellular carcinoma, Heart failure
Onset	Typically in adulthood
Duration	Chronic
Types	N/A
Causes	Genetic mutation in the TFR2 gene
Risks	Family history, European descent
Diagnosis	Serum ferritin, Transferrin saturation, Genetic testing
Differential diagnosis	Other types of haemochromatosis, Chronic liver disease, Porphyria cutanea tarda
Prevention	N/A
Treatment	Phlebotomy, Chelation therapy
Medication	Deferoxamine, Deferasirox, Deferiprone
Prognosis	Variable, depends on early diagnosis and treatment
Frequency	Rare
Deaths	Rare, if untreated can lead to complications

Haemochromatosis type 3 is a rare genetic disorder characterized by the excessive accumulation of iron in the body. This condition is caused by mutations in the TFRC gene and is inherited in an autosomal recessive manner.

Symptoms

The symptoms of Haemochromatosis type 3 typically begin in adulthood and may include fatigue, arthritis, and liver disease. Some affected individuals may also develop heart disease, diabetes, impotence, and skin discoloration.

Causes

Haemochromatosis type 3 is caused by mutations in the TFRC gene. This gene provides instructions for making a protein that is involved in the transport of iron into cells. Mutations in the TFRC gene disrupt the normal regulation of iron balance in the body, leading to the accumulation of iron in various tissues and organs.

Diagnosis

The diagnosis of Haemochromatosis type 3 is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. These tests may include blood tests to measure iron levels, genetic testing to identify mutations in the TFRC gene, and imaging studies to assess the extent of iron accumulation in the body.

Treatment

The treatment of Haemochromatosis type 3 is aimed at reducing the amount of iron in the body to normal levels. This is typically achieved through a procedure called phlebotomy, in which blood is removed from the body on a regular basis. Other treatment options may include dietary changes to reduce iron intake and medications to help remove excess iron from the body.

Prognosis

The prognosis for individuals with Haemochromatosis type 3 varies depending on the severity of the condition and the response to treatment. With early diagnosis and appropriate treatment, most individuals with this condition can lead normal, healthy lives.

See also

• Haemochromatosis
• Iron overload
• Genetic disorders
• Autosomal recessive inheritance

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