Hemochromatosis classification

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]


Hemochromatosis is divided on basis of it's etiology. Hereditary hemochromatosis is caused by defect in gene and secondary hemochromatosis is caused by excess absorption of iron, repeated blood transfusions, or excess oral intake, typically in patients with disorders of erythropoiesis.


Hemochromatosis can be classified on basis of mode of entry of iron source:


The entral source of hemochromatosis is hereditary hemochromatsis.[1][2]

  • Hereditary hemochromatosis is an autosomal recessive disorder having genetic mutation that affect HFE proteins that limit the entry of iron into the blood by regulating hepcidin, the primary iron regulatory hormone.
  • Following are classes in which hereditary hemochromatosis can be divided:
Description OMIM Mutation Locus
Hemochromatosis type 1: "classical"-hemochromatosis 235200 HFE 6p21.3
Hemochromatosis type 2A: juvenile hemochromatosis 602390 hemojuvelin ("HJV", also known as HFE2) 1q21
Hemochromatosis type 2B: juvenile hemochromatosis 606464 Hepcidin antimicrobial peptide (HAMP) or HFE2B 19q13
Hemochromatosis type 3 604720 transferrin receptor-2 (TFR2 or HFE3) 7q22
Hemochromatosis type 4 autosomal dominant hemochromatosis (all others are recessive), gene mutation 604653 ferroportin (SLC11A3) 2q32

Paraentral hemochromatosis refers to patients who get multiple blood transfusions.


Placental hemochromatosis/neonatal hemochromatosis to condition in which fetus has deposited iron in it's hepatic and or extra-hepatic tissue pathologically.[3][4][5]

  • Gestational allo-immune liver disease is cause of fetal liver injury that occurs in all cases of neonatal hemochromatosis.
  • In fetus the level of TFR1, transferrin, and ferritin is found high.
  • It is unclear what is the cause but it is believed that fetal blood extracts more iron from maternal blood.
  • As the fetal liver is damaged, it causes decreased levels of hepcidin.


  1. Liu J, Sun B, Yin H, Liu S (2016). "Hepcidin: A Promising Therapeutic Target for Iron Disorders: A Systematic Review". Medicine (Baltimore). 95 (14): e3150. doi:10.1097/MD.0000000000003150. PMC 4998755. PMID 27057839.
  2. Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
  3. Feldman AG, Whitington PF (2013). "Neonatal hemochromatosis". J Clin Exp Hepatol. 3 (4): 313–20. doi:10.1016/j.jceh.2013.10.004. PMC 3940210. PMID 25755519.
  4. Parkkila S, Waheed A, Britton RS, Bacon BR, Zhou XY, Tomatsu S; et al. (1997). "Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis". Proc Natl Acad Sci U S A. 94 (24): 13198–202. PMC 24286. PMID 9371823.
  5. Shimono A, Imoto Y, Sakamoto H, Chiba Y, Matsumoto K, Kawauchi M; et al. (2016). "An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis". Placenta. 48: 49–55. doi:10.1016/j.placenta.2016.10.005. PMID 27871472.

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