IDA
These ferritin and %sat are consistent with iron deficiency
Serum ferritin < 30 and iron sat < 15%
Classic triad seen in late-stage hemochromatosis.
What is cirrhosis, diabetes mellitus, and bronze skin?
Most common genetic mutation causing hereditary hemochromatosis.
What is HFE C282Y homozygous mutation?
This iron chelator is a subcutaneous injection
What is Desforaxamine?
Deferasirox and Deferipone are both oral
Mechanism by which chronic inflammation causes functional iron deficiency.
What is increased hepcidin leading to sequestration of iron in macrophages?
These are initial recommendations of someone with iron deficiency
Nutritionally - iron-rich diet = Meat, liver, beans (black beans or lentil)
Minimize blood loss - hormonal therapy
Once daily dosing or every other day for patients who are not anemic
Take in the morning with Vitamin C or water; avoid food or coffee
This transferrin saturation is indicative of hemachromatosis
What is > 45%?
Typical inheritance pattern of classic hemochromatosis.
What is autosomal recessive?
This iron chelator has the best oral bioavailability, usually used as first line, contraindicated with a creatinine clearance of less than 40.
What is Deferasirox?
Patients should see these two specialists before initiating chelator agents
What are ophthalmologists and audiologists?
Also should get EKG and pregnancy test
This is where and how iron is absorbed
What is absorbed in duodneum? Absorbed as Fe2!
What are ferritin goals for phlebotomy for HH?
What is ferritin less than a 100 (less than 1000 for chelator)
Goal Hct 35% for males 32% in females
FPN is a mutation in ferroportin resulting in INCREASED hepcidin. How is this disorder inherited?
What is Autosomal Dominant?
This iron chelator causes agranulocytosis
T/F TFR2 mutation hemochromatosis is more severe than HFE.
What is true?
increased intestinal absorption (TAKE FROM INTESTINE), transferrin receptor homologue
This lab can be collected in suspected iron deficient cases in settings of inflammation as it is not as severely affected.
What is soluble transferrin receptor?
Patients are susceptible to infections from siderophilic organisms - name these organisms.
This is the mutation associated with Juvenile Hemochromatosis
What is HJV/HAMP?
This iron formulation requires a test dose.
What is INFED (iron dextran)?
This “Iron Man” uses a metal suit to fight villains, but unfortunately, he doesn’t need a ferritin check.
Who is Tony Stark?
This is how you calculate an iron deficit.
What is Ganzoni formula
Total iron deficit = weight x target Hgb - actualHgb x 2.4 + iron stores(weight > 35kg = 500mg, weight < 35kg = 15mg/kg)
These are parameters for initiation of iron chelation
What is LIC > 7 mg/g dry weight (variable, have seen greater than 5 and 10, T2 < 20 ms (<10 very severe definitely start)
T/F H63D mutation confers a more severe hemochromatosis
What is false?
Less severe
What are Injectafer (ferric carboxymaltose) and Monoferric (Ferric Derisolmatose)?
Iron Refractory Iron Deficiency Anemia is associated with this mutation
What is TMPRSS6?