Sideroblastic anemia pathophysiology: Difference between revisions
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* Additional modifications of CPG in mitochondrion produces protoporphyrin IX. | * Additional modifications of CPG in mitochondrion produces protoporphyrin IX. | ||
* The final step is the insertion of iron into the protoporphyrin IX ring producing HEME. | * The final step is the insertion of iron into the protoporphyrin IX ring producing HEME. | ||
* This final reaction is catalyzed by enzyme ferrochelatase. | * This final reaction is catalyzed by enzyme ferrochelatase. | ||
[[File:HemeB.png|400px|thumb|left|Image showing Heme structure[https://commons.wikimedia.org/wiki/File:HemeB.png source:By SubDural12 [Public domain], from Wikimedia Commons]]] | |||
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=== Pathogenesis === | === Pathogenesis === |
Revision as of 16:24, 6 August 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:
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Overview
Sideroblastic anemia pathophysiology | |
Sideroblastic (microcytic) anemia |
Pathophysiology[1][2]
Physiology
The normal physiology of heme synthesis can be understood as follows:
- Mitochondria in the developing erythroid cells are the cellular site of heme production and iron utilization.
- Glycine combines with succinylcoA to form aminolenolinic acid(ALA)
- This reaction is catalyzed by ALA sunthetase enzyme (ALAS2) in mitochondria
- ALA synthetase requires vit B-6 as a cofactor
- Two molecules of aminolenolinic acid condense in cytosol to form porphobilinogen(PBG)
- This reaction is catalyzed by zinc containing enzyme called ALA dehydratase.
- Multiple enzymatic transformations in cytoplasm produce coproporphyrinogen III (CPG).
- Coproporphyrinogen III (CPG) enters the mitochondrion.
- Additional modifications of CPG in mitochondrion produces protoporphyrin IX.
- The final step is the insertion of iron into the protoporphyrin IX ring producing HEME.
- This final reaction is catalyzed by enzyme ferrochelatase.
Pathogenesis
- The exact pathogenesis of [disease name] is not completely understood.
OR
- It is understood that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
- [Pathogen name] is usually transmitted via the [transmission route] route to the human host.
- Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
- [Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
- The progression to [disease name] usually involves the [molecular pathway].
- The pathophysiology of [disease/malignancy] depends on the histological subtype.
Genetics[edit | edit source]
[Disease name] is transmitted in [mode of genetic transmission] pattern.
OR
Genes involved in the pathogenesis of [disease name] include:
- [Gene1]
- [Gene2]
- [Gene3]
OR
The development of [disease name] is the result of multiple genetic mutations such as:
References
- ↑ Fujiwara T, Harigae H (December 2013). "Pathophysiology and genetic mutations in congenital sideroblastic anemia". Pediatr Int. 55 (6): 675–9. doi:10.1111/ped.12217. PMID 24003969.
- ↑ Fleming MD (2011). "Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation". Hematology Am Soc Hematol Educ Program. 2011: 525–31. doi:10.1182/asheducation-2011.1.525. PMID 22160084.