Hemochromatosis classification: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Hemochromatosis}} | {{Hemochromatosis}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}}{{SKA}} | ||
==Overview== | ==Overview== | ||
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===== Entral: ===== | ===== Entral: ===== | ||
The entral source of hemochromatosis is hereditary hemochromatsis.<ref name="pmid27057839">{{cite journal| author=Liu J, Sun B, Yin H, Liu S| title=Hepcidin: A Promising Therapeutic Target for Iron Disorders: A Systematic Review. | journal=Medicine (Baltimore) | year= 2016 | volume= 95 | issue= 14 | pages= e3150 | pmid=27057839 | doi=10.1097/MD.0000000000003150 | pmc=4998755 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27057839 }}</ref><ref name="pmid23418762">{{cite journal| author=Crownover BK, Covey CJ| title=Hereditary hemochromatosis. | journal=Am Fam Physician | year= 2013 | volume= 87 | issue= 3 | pages= 183-90 | pmid=23418762 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23418762 }}</ref> | |||
* 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: | |||
* | |||
* | |||
{| class="wikitable" | {| class="wikitable" | ||
| '''Description''' || '''[[OMIM]]''' || '''Mutation''' || '''[[Locus (genetics)|Locus]]''' | | '''Description''' || '''[[OMIM]]''' || '''Mutation''' || '''[[Locus (genetics)|Locus]]''' | ||
|- | |- | ||
| | | Hemochromatosis type 1: "classical"-hemochromatosis || {{OMIM2|235200}} || [[HFE (gene)|HFE]] || 6p21.3 | ||
|- | |- | ||
| | | Hemochromatosis type 2A: juvenile hemochromatosis || {{OMIM2|602390}} || [[hemojuvelin]] ("HJV", also known as HFE2) || 1q21 | ||
|- | |- | ||
| | | Hemochromatosis type 2B: juvenile hemochromatosis || {{OMIM2|606464}} || [[Hepcidin]] antimicrobial peptide (''[[HAMP]]'') or HFE2B || 19q13 | ||
|- | |- | ||
| | | Hemochromatosis type 3 || {{OMIM2|604720}} || [[transferrin receptor-2]] (TFR2 or HFE3) || 7q22 | ||
|- | |- | ||
| | | Hemochromatosis type 4 [[autosomal dominant]] hemochromatosis (all others are [[Recessive gene|recessive]]), gene mutation || {{OMIM2|604653}} || [[ferroportin]] (SLC11A3) || 2q32 | ||
|} | |} | ||
===== Paraentral: ===== | |||
Paraentral hemochromatosis refers to patients who get multiple blood transfusions. | |||
* It is commonly found in patients with [[Hemoglobinopathy|hemoglobinopathies]] such as major [[thalassemia]]. | |||
===== Placental: ===== | |||
[[Placental]] hemochromatosis/neonatal hemochromatosis to condition in which [[fetus]] has deposited iron in it's [[hepatic]] and or extra-hepatic tissue pathologically.<ref name="pmid25755519">{{cite journal| author=Feldman AG, Whitington PF| title=Neonatal hemochromatosis. | journal=J Clin Exp Hepatol | year= 2013 | volume= 3 | issue= 4 | pages= 313-20 | pmid=25755519 | doi=10.1016/j.jceh.2013.10.004 | pmc=3940210 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25755519 }}</ref><ref name="pmid9371823">{{cite journal| author=Parkkila S, Waheed A, Britton RS, Bacon BR, Zhou XY, Tomatsu S et al.| title=Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. | journal=Proc Natl Acad Sci U S A | year= 1997 | volume= 94 | issue= 24 | pages= 13198-202 | pmid=9371823 | doi= | pmc=24286 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9371823 }}</ref><ref name="pmid27871472">{{cite journal| author=Shimono A, Imoto Y, Sakamoto H, Chiba Y, Matsumoto K, Kawauchi M et al.| title=An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis. | journal=Placenta | year= 2016 | volume= 48 | issue= | pages= 49-55 | pmid=27871472 | doi=10.1016/j.placenta.2016.10.005 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27871472 }}</ref> | |||
* 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]]. | |||
==References== | ==References== | ||
Latest revision as of 15:50, 29 October 2018
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Hemochromatosis classification On the Web |
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Risk calculators and risk factors for Hemochromatosis classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sunny Kumar MD [2]
Overview
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.
Classification
Hemochromatosis can be classified on basis of mode of entry of iron source:
Entral:
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:
Paraentral hemochromatosis refers to patients who get multiple blood transfusions.
- It is commonly found in patients with hemoglobinopathies such as major thalassemia.
Placental:
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.
References
- ↑ 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.
- ↑ Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
- ↑ 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.
- ↑ 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.
- ↑ 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.