Hereditary haemochromatosis

Hereditary haemochromatosis (pronunciation: /hɪˌrɛdɪˈtɛri ˌhiːməʊkrəˈməʊtəsɪs/) is a genetic disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, and liver. Over time, the excess iron can lead to life-threatening conditions such as liver disease, heart disease, and diabetes.

Etymology

The term "haemochromatosis" is derived from the Greek words "haima" (blood) and "chroma" (color), referring to the characteristic bronze discoloration of the skin in individuals with the condition. The prefix "hereditary" indicates that the condition is inherited, or passed down from parents to their children through their genes.

Symptoms

Symptoms of hereditary haemochromatosis can vary widely between individuals. Some people may have no symptoms, while others may experience fatigue, joint pain, abdominal pain, and loss of libido. In severe cases, individuals may develop cirrhosis of the liver, heart failure, or diabetes.

Diagnosis

Diagnosis of hereditary haemochromatosis typically involves a combination of blood tests, genetic testing, and liver biopsy. Blood tests can reveal high levels of iron in the blood, while genetic testing can identify mutations in the HFE gene, which are responsible for most cases of hereditary haemochromatosis. A liver biopsy can confirm the diagnosis and assess the degree of liver damage.

Treatment

Treatment for hereditary haemochromatosis primarily involves reducing the amount of iron in the body. This is typically achieved through a process called phlebotomy, in which blood is regularly removed from the body. Dietary changes, such as avoiding iron-rich foods and alcohol, can also help manage the condition.

Related Terms

• Iron overload
• HFE gene
• Genetic disorder
• Liver disease
• Heart disease
• Diabetes

External links

• Medical encyclopedia article on Hereditary haemochromatosis
• Wikipedia's article - Hereditary haemochromatosis

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