Hemochromatosis classification: Difference between revisions
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* 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. | * 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. | ||
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{| class="wikitable" | {| class="wikitable" | ||
| '''Description''' || '''[[OMIM]]''' || '''Mutation''' || '''[[Locus (genetics)|Locus]]''' | | '''Description''' || '''[[OMIM]]''' || '''Mutation''' || '''[[Locus (genetics)|Locus]]''' | ||
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| Haemochromatosis type 4 [[autosomal dominant]] haemochromatosis (all others are [[Recessive gene|recessive]]), gene mutation || {{OMIM2|604653}} || [[ferroportin]] (SLC11A3) || 2q32 | | Haemochromatosis type 4 [[autosomal dominant]] haemochromatosis (all others are [[Recessive gene|recessive]]), gene mutation || {{OMIM2|604653}} || [[ferroportin]] (SLC11A3) || 2q32 | ||
|} | |} | ||
===== Paraentral: ===== | |||
Paraentral haemochromatosis refers to patients who get multiple blood transfusions. | |||
* It is commonly found in patients with hemoglobinopathies such as Thalasmia major. | |||
===== Placental: ===== | |||
Placental haemochromatosis/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 alloimmune 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== |
Revision as of 20:27, 22 November 2017
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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.
Description | OMIM | Mutation | Locus |
Haemochromatosis type 1: "classical"-haemochromatosis | 235200 | HFE | 6p21.3 |
Haemochromatosis type 2A: juvenile haemochromatosis | 602390 | hemojuvelin ("HJV", also known as HFE2) | 1q21 |
Haemochromatosis type 2B: juvenile haemochromatosis | 606464 | hepcidin antimicrobial peptide (HAMP) or HFE2B | 19q13 |
Haemochromatosis type 3 | 604720 | transferrin receptor-2 (TFR2 or HFE3) | 7q22 |
Haemochromatosis type 4 autosomal dominant haemochromatosis (all others are recessive), gene mutation | 604653 | ferroportin (SLC11A3) | 2q32 |
Paraentral:
Paraentral haemochromatosis refers to patients who get multiple blood transfusions.
- It is commonly found in patients with hemoglobinopathies such as Thalasmia major.
Placental:
Placental haemochromatosis/Neonatal hemochromatosis to condition in which fetus has deposited iron in it's hepatic and or extra-hepatic tissue pathologically.[3][4][5]
- Gestational alloimmune 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.