Sideroblastic anemia pathophysiology

Sideroblastic anemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Sideroblastic Anemia 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
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
Sideroblastic anemia pathophysiology On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Sideroblastic anemia pathophysiology All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Sideroblastic anemia pathophysiology
CDC on Sideroblastic anemia pathophysiology
Sideroblastic anemia pathophysiology in the news
Blogs on Sideroblastic anemia pathophysiology
Directions to Hospitals Treating Sideroblastic anemia
Risk calculators and risk factors for Sideroblastic anemia pathophysiology

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Nazia Fuad M.D.

Overview

Sideroblastic anemia pathophysiology
Sideroblastic (microcytic) anemia

Pathophysiology

Physiology

Heme is porphyrin containing compound, with an Fe iron ion in the centre,surrounded by heterocyclic organic ring of porphyrin.

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.

Image showing Heme structuresource:By SubDural12 [Public domain, from Wikimedia Commons]

Image showing Heme synthesis source:By Wmheric [CC BY-SA 3.0 (https://creativecommons.org/licenses/by-sa/3.0) [Public domain], from Wikimedia Commons]

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: