Hemochromatosis causes: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
 
(12 intermediate revisions by 2 users not shown)
Line 4: Line 4:


==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 unchecked transfer of iron into the bloodstream in the absence of increased erythropoietic needs and its toxic effects in parenchymatous organs.
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>
* The features of Hemochromatosis are due to presence of toxic iron in pro-oxidant form in surroundings of parenchymatous tissue cells of the liver and other organs, where it can cause oxidative damage and lead to cirrhosis, hypogonadism, diabetes, cardiomyopathy, arthropathy, and skin pigmentation.
* 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.


* 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)|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.


* 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)|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:


* 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.
'''Entral:'''
Following are classes which have their respective causes:
* The entral source of hemochromatosis is hereditary hemochromatsis. Genes involved are<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><ref name="pmid24574363">{{cite journal| author=Emanuele D, Tuason I, Edwards QT| title=HFE-associated hereditary hemochromatosis: overview of genetics and clinical implications for nurse practitioners in primary care settings. | journal=J Am Assoc Nurse Pract | year= 2014 | volume= 26 | issue= 3 | pages= 113-22 | pmid=24574363 | doi=10.1002/2327-6924.12106 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24574363  }}</ref>
{| class="wikitable"
| '''Description''' || '''[[OMIM]]''' || '''Mutation''' || '''[[Locus (genetics)|Locus]]'''
|-
| Haemochromatosis type 1: "classical"-haemochromatosis  || {{OMIM2|235200}} || [[HFE (gene)|HFE]] || 6p21.3
|-
| Haemochromatosis type 2A: juvenile haemochromatosis || {{OMIM2|602390}} || [[hemojuvelin]] ("HJV", also known as HFE2) || 1q21
|-
| Haemochromatosis type 2B: juvenile haemochromatosis || {{OMIM2|606464}} || hepcidin antimicrobial peptide (''[[HAMP]]'') or HFE2B || 19q13
|-
| Haemochromatosis type 3 || {{OMIM2|604720}} || [[transferrin receptor-2]] (TFR2 or HFE3) || 7q22
|-
| 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.
'''Placental''':
* 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 allo-immune [[liver]] disease is cause of fetal [[liver]] injury that occurs in all cases of neonatal hemochromatosis.
 
* 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 [[Fetus|fetal]] blood extracts more [[iron]] from maternal blood.


Entral:
* As the fetal [[liver]] is damaged, it causes decreased levels of [[hepcidin]].
* The entral source of hemochromatosis is hereditary hemochromatsis. Genes involved are
* {| class="wikitable"  | <nowiki>'''</nowiki>Description<nowiki>'''</nowiki> || <nowiki>'''</nowiki><nowiki>[[OMIM]]</nowiki><nowiki>'''</nowiki> || <nowiki>'''</nowiki>Mutation<nowiki>'''</nowiki> || <nowiki>'''</nowiki><nowiki>[[Locus (genetics)|Locus]]</nowiki><nowiki>'''</nowiki>   |-    | Haemochromatosis type 1: "classical"-haemochromatosis  || <nowiki>{{OMIM2|235200}}</nowiki> || <nowiki>[[HFE (gene)|HFE]]</nowiki> || 6p21.3   |-    | Haemochromatosis type 2A: juvenile haemochromatosis || <nowiki>{{OMIM2|602390}}</nowiki> || <nowiki>[[hemojuvelin]]</nowiki> ("HJV", also known as HFE2) || 1q21   |-    | Haemochromatosis type 2B: juvenile haemochromatosis || <nowiki>{{OMIM2|606464}}</nowiki> || hepcidin antimicrobial peptide (<nowiki>''</nowiki><nowiki>[[HAMP]]</nowiki><nowiki>''</nowiki>) or HFE2B || 19q13   |-    | Haemochromatosis type 3 || <nowiki>{{OMIM2|604720}}</nowiki> || <nowiki>[[transferrin receptor-2]]</nowiki> (TFR2 or HFE3) || 7q22   |-    | Haemochromatosis type 4 <nowiki>[[autosomal dominant]]</nowiki> haemochromatosis (all others are <nowiki>[[Recessive gene|recessive]]</nowiki>),  gene mutation || <nowiki>{{OMIM2|604653}}</nowiki> || <nowiki>[[ferroportin]]</nowiki> (SLC11A3) || 2q32  |}


==References==
==References==

Latest revision as of 19:59, 29 October 2018

Hemochromatosis Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hemochromatosis from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hemochromatosis causes On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hemochromatosis causes

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hemochromatosis causes

CDC on Hemochromatosis causes

Hemochromatosis causes in the news

Blogs on Hemochromatosis causes

Directions to Hospitals Treating Hemochromatosis

Risk calculators and risk factors for Hemochromatosis causes

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:

  • The entral source of hemochromatosis is hereditary hemochromatsis. Genes involved are[3][4]
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.
  • 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

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ Crownover BK, Covey CJ (2013). "Hereditary hemochromatosis". Am Fam Physician. 87 (3): 183–90. PMID 23418762.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ 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.

Template:WH Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Hemochromatosis_causes&oldid=1500570"