Hereditary hemochromatosis
| Iron overload | |
|---|---|
| Synonyms | bronze diabetes, hemochromatosis, haemochromatosis |
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| Micrograph of haemosiderosis. Liver biopsy. Iron stain. | |
| Classification and external resources | |
| Specialty | Hematology |
| ICD-10 | E83.1 |
| ICD-9-CM | 275.03 |
| DiseasesDB | 5581 |
| MedlinePlus | 000327 |
| MeSH | D019190 |
Iron overload, also known as hemochromatosis, indicates accumulation of iron in the body from any cause. The most important causes are hereditary haemochromatosis (HHC), a genetic disorder, and transfusional iron overload, which can result from repeated blood transfusions.
Organs commonly affected by haemochromatosis are the liver, heart, and endocrine glands.
Haemochromatosis may present with the following clinical syndromes:
The causes can be distinguished between primary cases (hereditary or genetically determined) and less frequent secondary cases (acquired during life). People of Celtic (Irish, Scottish, Welsh, Cornish, Breton etc.), English, and Scandinavian origin have a particularly high incidence of whom about 10% are carriers of the C282Y mutation on the HFE gene associated with HLA-A3 and 1% suffer from the condition.
Although it was known most of the 20th century that most cases of haemochromatosis were inherited, they were incorrectly assumed to depend on a single gene. The overwhelming majority depend on mutations of the HFE gene discovered in 1996, but since then others have been discovered and sometimes are grouped together as "non-classical hereditary haemochromatosis", "non-HFE related hereditary haemochromatosis", or "non-HFE haemochromatosis".
Most types of hereditary haemochromatosis have autosomal recessive inheritance, while type 4 has autosomal dominant inheritance.
There are several methods available for diagnosing and monitoring iron loading including:
Serum ferritin testing is a low-cost, readily available, and minimally invasive method for assessing body iron stores. However, the major problem with using it as an indicator of iron overload is that it can be elevated in a range of other medical conditions unrelated to iron levels including infection, inflammation, fever, liver disease, kidney disease, and cancer. Also, total iron binding capacity may be low, but can also be normal.
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