Hemochromatosis classification: Difference between revisions

Jump to navigation Jump to search
No edit summary
 
(18 intermediate revisions by 2 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Hemochromatosis}}
{{Hemochromatosis}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}}{{SKA}}


==Overview==
==Overview==
Line 7: Line 7:


==Classification==
==Classification==
Recently, a classification has been developed (with chromosome locations):
Hemochromatosis can be classified on basis of mode of entry of iron source:


===== 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]]'''
  |-  
  |-  
  | Haemochromatosis type 1: "classical"-haemochromatosis || {{OMIM2|235200}} || [[HFE (gene)|HFE]] || 6p21.3
  | Hemochromatosis type 1: "classical"-hemochromatosis || {{OMIM2|235200}} || [[HFE (gene)|HFE]] || 6p21.3
  |-  
  |-  
  | Haemochromatosis type 2A: juvenile haemochromatosis || {{OMIM2|602390}} || [[hemojuvelin]] ("HJV", also known as HFE2) || 1q21
  | Hemochromatosis type 2A: juvenile hemochromatosis || {{OMIM2|602390}} || [[hemojuvelin]] ("HJV", also known as HFE2) || 1q21
  |-  
  |-  
  | Haemochromatosis type 2B: juvenile haemochromatosis || {{OMIM2|606464}} || hepcidin antimicrobial peptide (''[[HAMP]]'') or HFE2B || 19q13
  | Hemochromatosis type 2B: juvenile hemochromatosis || {{OMIM2|606464}} || [[Hepcidin]] antimicrobial peptide (''[[HAMP]]'') or HFE2B || 19q13
  |-  
  |-  
  | Haemochromatosis type 3 || {{OMIM2|604720}} || [[transferrin receptor-2]] (TFR2 or HFE3) || 7q22
  | Hemochromatosis 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
  | 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

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 classification On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hemochromatosis classification

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hemochromatosis classification

CDC on Hemochromatosis classification

Hemochromatosis classification in the news

Blogs on Hemochromatosis classification

Directions to Hospitals Treating Hemochromatosis

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.

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

  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.

Template:WH Template:WS