Iron Overload Flashcards
What are some infections that can occur with iron overload?
Infections that can occur include Vibrio Vulnificus, yersina enterocolitica, and listeria monocytogenes.
What are the laboratory markers consistent with iron overload?
Elevated ferritin with high transferrin saturation.
What are the mutation defects seen in HFE hemachromatosis?
- C282Y HFE mutation on chromosome 6
- HFE deficient protein-decreased hepcidin
- HFE nucleotide 187 is due to a G to C substitution
What is unique about the C282Y HFE mutation and the clinical presentation?
The gene is not associated with 100% penetrance (actually up to 25% penetrance) so even some homozygotes may not have the full clinical disease.
In a HFE patient who has a ferritin>1000, what is the best next step?
All patients require a liver biopsy to rule out fibrosis/cirrhosis for proper screening for HC.
What treatment for HFE should be considered if they have hemodynamic instability and advanced cardiac failure?
isovolemic erythrocytapheresis
What is the ferritin goal with phlebotomy?
Around 50
What are the gene mutations in Juvenile Hemochromatosis and what is the clinical severity?
HAMP mutation at chromosome 19 and hemojuvulin mutation at chromosome 1. Both result in hepcidin def. Severe phenotype.
What is the mode of inheritance of the HFE gene in hemochromatosis?
Autosomal recessive
What is a major side effect seen with Deferiprone?
Agranulocytosis, although this is quite rare.
With Deforoxamine what two things need to be monitored yearly due to potential toxicity?
Eye and ear exam, potential for ocular and otic toxicity.
What side effect can be seen with Deferasirox?
Renal Insufficiency
