Iron overload disorder

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Iron overload disorder
ICD-10 R79.0
ICD-9 790.6

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Overview

In medicine, iron overload disorders are diseases caused by the accumulation of iron in the body. Organs commonly affected are the liver, heart and endocrine glands.[1]

Causes

The causes can be distinguished between primary (generally genetic) and secondary (due to other conditions).[2]

Primary iron overload

Description OMIM Mutation
Haemochromatosis type 1: "classical"-haemochromatosis 235200 HFE
Haemochromatosis type 2A: juvenile haemochromatosis 602390 hemojuvelin ("HJV", also known as HFE2)
Haemochromatosis type 2B: juvenile haemochromatosis 606464 hepcidin antimicrobial peptide (HAMP) or HFE2B
Haemochromatosis type 3 604720 transferrin receptor-2 (TFR2 or HFE3)
Haemochromatosis type 4 604653 ferroportin (SLC11A3)
Neonatal haemochromatosis 231100 (unknown)
Aceruloplasminaemia (rare disease) 604290 ceruloplasmin
Congenital atransferrinaemia (rare disease) 209300 transferrin

Secondary iron overload

Miscellaneous

The part-genetic, part-environmental syndrome known as African iron overload in sub-Sahara Africa (Online Mendelian Inheritance in Man (OMIM) 601195)

See also

References

  1. Andrews NC (1999). "Disorders of iron metabolism". N. Engl. J. Med. 341 (26): 1986–95. PMID 10607817.
  2. Pietrangelo A (2003). "Haemochromatosis". Gut. 52 Suppl 2: ii23–30. PMID 12651879.

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