Hemochromatosis causes: Difference between revisions
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==Overview== | ==Overview== | ||
Hemochromatosis is due to the iron transfer into the bloodstream in the absence of increased erythropoietic needs that can be toxic for the parenchymatous organs. | |||
==Causes== | ==Causes== | ||
Hemochromatosis is due to | Hemochromatosis is due to the iron transfer into the bloodstream in the absence of increased erythropoietic needs that can be toxic for the parenchymatous organs.<ref name="pmid26164493">{{cite journal| author=Pietrangelo A| title=Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin. | journal=Gastroenterology | year= 2015 | volume= 149 | issue= 5 | pages= 1240-1251.e4 | pmid=26164493 | doi=10.1053/j.gastro.2015.06.045 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26164493 }}</ref><ref name="pmid25454304">{{cite journal| author=Salgia RJ, Brown K| title=Diagnosis and management of hereditary hemochromatosis. | journal=Clin Liver Dis | year= 2015 | volume= 19 | issue= 1 | pages= 187-98 | pmid=25454304 | doi=10.1016/j.cld.2014.09.011 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25454304 }}</ref> | ||
* | * Hereditary hemochromatosis can occur when a person inherits two mutated copies of a gene called the [[HFE (gene)|HFE gene]] — one from each parent. Men and women have the same chance of inheriting two copies of this gene. | ||
* | * Not everyone who is born with two copies of the mutated [[HFE (gene)|HFE gene]] develops the disease. Scientists do not know what percentage of people who have two copies of the mutated [[HFE (gene)|HFE gene]] develop the disease. Some studies have shown that as few as 1 in 100 people will develop symptoms. Other studies have shown that as many as 50 in 100 people may develop symptoms. | ||
* A person with only one copy of the mutated [[HFE (gene)|HFE gene]] is usually healthy and is said to be a “carrier” of the genetic condition. Although a carrier usually does not have hemochromatosis, if both a mother and father are carriers, a child may inherit two copies of the mutated gene, one from each parent. | |||
* A person with only one copy of the mutated HFE gene is usually healthy and is said to be a “carrier” of the genetic condition. Although a carrier usually does not have hemochromatosis, if both a mother and father are carriers, a child may inherit two copies of the mutated gene, one from each parent. | |||
Following are classes which have their respective causes: | Following are classes which have their respective causes: | ||
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* Paraentral haemochromatosis refers to patients who get multiple blood transfusions. | * Paraentral haemochromatosis refers to patients who get multiple blood transfusions. | ||
'''Placental''': | '''Placental''': | ||
* Placental haemochromatosis/Neonatal hemochromatosis | * Placental haemochromatosis/Neonatal hemochromatosis is a condition in which fetus has deposited iron in its [[hepatic]] and or extra-hepatic tissue pathologically.<ref name="pmid24030714">{{cite journal| author=Lopriore E, Mearin ML, Oepkes D, Devlieger R, Whitington PF| title=Neonatal hemochromatosis: management, outcome, and prevention. | journal=Prenat Diagn | year= 2013 | volume= 33 | issue= 13 | pages= 1221-5 | pmid=24030714 | doi=10.1002/pd.4232 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24030714 }}</ref><ref name="pmid26836824">{{cite journal| author=Korkmaz L, Baştuğ O, Daar G, Doğanay S, Deniz K, Kurtoğlu S| title=Neonatal hemochromatosis in monochorionic twins. | journal=J Neonatal Perinatal Med | year= 2015 | volume= 8 | issue= 4 | pages= 413-6 | pmid=26836824 | doi=10.3233/NPM-1577113 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26836824 }}</ref> | ||
* Gestational | * 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. | * In fetus the level of [[Transferrin receptor 1|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. | * It is unclear what is the cause but it is believed that [[Fetus|fetal]] blood extracts more [[iron]] from maternal blood. | ||
* As the fetal liver is damaged, it causes decreased levels of | * As the fetal [[liver]] is damaged, it causes decreased levels of [[hepcidin]]. | ||
==References== | ==References== | ||
Latest revision as of 19:59, 29 October 2018
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Hemochromatosis Microchapters |
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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 due to the iron transfer into the bloodstream in the absence of increased erythropoietic needs that can be toxic for the parenchymatous organs.
Causes
Hemochromatosis is due to the iron transfer into the bloodstream in the absence of increased erythropoietic needs that can be toxic for the parenchymatous organs.[1][2]
- Hereditary hemochromatosis can occur when a person inherits two mutated copies of a gene called the HFE gene — one from each parent. Men and women have the same chance of inheriting two copies of this gene.
- Not everyone who is born with two copies of the mutated HFE gene develops the disease. Scientists do not know what percentage of people who have two copies of the mutated HFE gene develop the disease. Some studies have shown that as few as 1 in 100 people will develop symptoms. Other studies have shown that as many as 50 in 100 people may develop symptoms.
- A person with only one copy of the mutated HFE gene is usually healthy and is said to be a “carrier” of the genetic condition. Although a carrier usually does not have hemochromatosis, if both a mother and father are carriers, a child may inherit two copies of the mutated gene, one from each parent.
Following are classes which have their respective causes:
Entral:
| 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.
Placental:
- Placental haemochromatosis/Neonatal hemochromatosis is a condition in which fetus has deposited iron in its hepatic and or extra-hepatic tissue pathologically.[5][6]
- 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.
References
- ↑ Pietrangelo A (2015). "Genetics, Genetic Testing, and Management of Hemochromatosis: 15 Years Since Hepcidin". Gastroenterology. 149 (5): 1240–1251.e4. doi:10.1053/j.gastro.2015.06.045. PMID 26164493.
- ↑ Salgia RJ, Brown K (2015). "Diagnosis and management of hereditary hemochromatosis". Clin Liver Dis. 19 (1): 187–98. doi:10.1016/j.cld.2014.09.011. PMID 25454304.
- ↑ Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
- ↑ Emanuele D, Tuason I, Edwards QT (2014). "HFE-associated hereditary hemochromatosis: overview of genetics and clinical implications for nurse practitioners in primary care settings". J Am Assoc Nurse Pract. 26 (3): 113–22. doi:10.1002/2327-6924.12106. PMID 24574363.
- ↑ Lopriore E, Mearin ML, Oepkes D, Devlieger R, Whitington PF (2013). "Neonatal hemochromatosis: management, outcome, and prevention". Prenat Diagn. 33 (13): 1221–5. doi:10.1002/pd.4232. PMID 24030714.
- ↑ Korkmaz L, Baştuğ O, Daar G, Doğanay S, Deniz K, Kurtoğlu S (2015). "Neonatal hemochromatosis in monochorionic twins". J Neonatal Perinatal Med. 8 (4): 413–6. doi:10.3233/NPM-1577113. PMID 26836824.