Related Experiment Video
Updated: Jul 6, 2026
05:23
Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
Published on: March 14, 2017
Hepatic iron overload in aceruloplasminaemia
N E Hellman1, M Schaefer, S Gehrke
1Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
Gut
|November 15, 2000
Summary
Aceruloplasminaemia, a genetic disorder, causes iron overload unresponsive to phlebotomy. This case highlights its role in neurological disease and iron metabolism.
Area of Science:
- Genetics
- Neurology
- Hepatology
Background:
- Investigated a patient with diabetes mellitus and hepatic iron excess initially diagnosed as hemochromatosis.
- Patient's iron overload persisted despite extensive phlebotomy treatment.
Observation:
- Neurological disease developed in the patient.
- A novel frameshift mutation in the ceruloplasmin gene was identified.
- Aceruloplasminaemia was confirmed as the diagnosis.
Findings:
- Ceruloplasmin deficiency leads to iron accumulation in the liver and brain.
- Cellular iron efflux is dependent on ceruloplasmin function.
- Standard phlebotomy is ineffective for treating iron overload in aceruloplasminaemia.
Implications:
- Aceruloplasminaemia should be considered in the differential diagnosis of hepatic iron overload.
- Understanding ceruloplasmin's role in iron transport is crucial for developing targeted therapies.
- This case provides insights into the pathogenesis of iron storage and efflux disorders.
Related Concept Videos
01:26Anticholinesterase Agents: Poisoning and Treatment
Anticholinesterases, also known as cholinesterase inhibitors, work by blocking the breakdown of acetylcholine, leading to its accumulation in the synaptic cleft. This accumulation indirectly enhances both muscarinic and nicotinic actions. These agents are classified as reversible or irreversible based on their mechanism of action.
Irreversible agents form a strong bond with the cholinesterase enzyme, making it inactive. The breakdown of the phosphorylated enzyme is slower than the...
Irreversible agents form a strong bond with the cholinesterase enzyme, making it inactive. The breakdown of the phosphorylated enzyme is slower than the...
01:22Lifecycle of Erythrocytes
Erythrocytes, also known as red blood cells, constantly move through blood capillaries. As a result, they damage their plasma membrane due to the continuous friction. Typically, after 100 to 120 days, erythrocytes become rigid and fragile as they wear out. As they pass through small vessels in the spleen and liver, they can get trapped and break apart into fragments.
The resident phagocytic macrophages deal with these damaged cells by engulfing them and separating their globin and heme groups.
The resident phagocytic macrophages deal with these damaged cells by engulfing them and separating their globin and heme groups.
01:27Disorders of Erythrocytes
Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
01:27Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
01:29Hepatic Encephalopathy
DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
01:25Jaundice
Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...