Hemochromatosis classification: Difference between revisions
Jump to navigation
Jump to search
Sunny Kumar (talk | contribs) |
Sunny Kumar (talk | contribs) |
||
| Line 18: | Line 18: | ||
===== Placental: ===== | ===== Placental: ===== | ||
* Placental haemochromatosis/Neonatal hemochromatosis to condition in which fetus has deposited iron in it's hepatic and or extra-hepatic tissue pathologically. | * 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> | ||
* Gestational alloimmune liver disease is cause of fetal liver injury that occurs in all cases of Neonatal hemochromatosis. | * Gestational alloimmune liver disease is cause of fetal liver injury that occurs in all cases of Neonatal hemochromatosis. | ||
* It is unclear what is the cause | * 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. | |||
{| class="wikitable" | {| class="wikitable" | ||
| '''Description''' || '''[[OMIM]]''' || '''Mutation''' || '''[[Locus (genetics)|Locus]]''' | | '''Description''' || '''[[OMIM]]''' || '''Mutation''' || '''[[Locus (genetics)|Locus]]''' | ||
Revision as of 23:23, 20 November 2017
|
Hemochromatosis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Hemochromatosis classification On the Web |
|
American Roentgen Ray Society Images of Hemochromatosis classification |
|
Risk calculators and risk factors for Hemochromatosis classification |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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.
- 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.
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.[1]
- 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.
| 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 |
References
- ↑ 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.