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Hereditary Hemochromatosis

Endocrine, Nutritional and Metabolic Diseases

Hereditary hemochromatosis is a genetic disorder that causes the body to absorb too much iron from food, most commonly resulting from inherited mutations in the HFE gene. Excess iron gradually builds up in the liver, heart, pancreas and joints, and left untreated it can lead to liver cirrhosis, diabetes, heart problems and arthritis; the disorder is most common among people of Northern European descent and is usually managed by regularly removing blood to reduce iron levels. The link between the disorder and the HFE gene on chromosome 6 was identified by researchers in 1996.

Facts
Classification
Body System
Endocrine System 1
ICD-10 Chapter
IV: Endocrine, Nutritional and Metabolic Diseases 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 3
Causative Agent
Causative Agent (category)
Genetic / Hereditary 3
First Described
1865 4
Connections

Treated By

Therapeutic phlebotomy is the standard first-line treatment for hereditary hemochromatosis.

Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter IV
Quote, List of chapters, Chapter IV
Endocrine, nutritional and metabolic diseases
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2. World Health Organization: Noncommunicable diseases (fact sheet)
World Health OrganizationMain Types section
Quote, Main Types section
The main types of NCDs are cardiovascular diseases (such as heart attacks and stroke), cancers, chronic respiratory diseases (such as chronic obstructive pulmonary disease and asthma) and diabetes.
View the Source
3. Wikipedia: Hereditary haemochromatosis
Wikipedia
  • Article text
    There are five types of hereditary haemochromatosis: type 1, 2 (2A, 2B), 3, 4 and 5, all caused by mutated genes.
  • Lead section, transmission-route statement
    Hereditary haemochromatosis type 1 (HFE-related haemochromatosis) is a genetic disorder characterized by excessive intestinal absorption of dietary iron, resulting in a pathological increase in total body iron stores.
View the Source
4. Hereditary Hemochromatosis (Wikipedia)
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