interesting iron profile: microcytic anemia, normal transferrin, elevated Ferritin ?

[DrMetal]

Have you ever seen a profile like this:

decreased H/H (9s/20s)
decreased MCV (60s)

normal Iron (serum)
normal TIBC
normal transferrin sat

elevated Ferritin (500s) [with no other inflammatory signs/symptoms/findings]

I can't quite put my finger on what pathology this is (if any). Hemochromatosis would have an elevated transferrin, and not likely to have a microcytic anemia, right? Are there mutations where Ferritin can hang on to iron too well, depriving hemoglobin synthesis? (pretty rare, right?)

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[aafisahar]

thalessemia

 

[VA Hopeful Dr]

thalessemia

Yep. I was told, I think by someone on SDN, that an MCV in the 60s is a thalessemia until proven otherwise.

 

[DrMetal]

thalessemia

Yeah, thought that too, but electrophoresis was normal

 

[Royster33]

Yeah, thought that too, but electrophoresis was normal

What is the patient's ancestry? If southeast Asian can do DNA testing for alpha-thalassemia as this can sometimes present with a normal electrophoresis.

 

[DrMetal]

What is the patient's ancestry? If southeast Asian can do DNA testing for alpha-thalassemia as this can sometimes present with a normal electrophoresis.

actually, yes, patient is of southeast asian decent. interesting, i'll look into that, thanks!

 

[gutonc]

Definitely thalassemia. But that doesn't explain the very low Hgb by itself, as these folks usually have a low-normal Hgb, low HCT, nml to elevated RBC count and severe microcytosis.

I'd check the DNA and also serum copper levels since copper def can cause and mimic a lot of things.

And then I'd forget about it unless that's the sole reason she's hospitalized (you're inpatient, right).

 

[DrMetal]

Definitely thalassemia. But that doesn't explain the very low Hgb by itself, as these folks usually have a low-normal Hgb, low HCT, nml to elevated RBC count and severe macrocytosis.

I'd check the DNA and also serum copper levels since copper def can cause and mimic a lot of things.

And then I'd forget about it unless that's the sole reason she's hospitalized (you're inpatient, right).

No this was in my outpatient clinic (I do both, joys of being in the military). Thanks, I didn't think to check copper will do

 

[gutonc]

No this was in my outpatient clinic (I do both, joys of being in the military). Thanks, I didn't think to check copper will do

Then definitely forget it unless it's brand new and symptomatic.

 

[whoknows2012]

Alpha thal. Send alpha thal dna analysis. Normal hgb electrophoresis obv rules out beta thal but ferritin being elevated here is a red herring and likely unrelated to rest of iron studies/cbc

Generally speaking mcv that low in absence of obvious IDA is thalassemia until proven otherwise

 

[Redpancreas]

Have you ever seen a profile like this:

decreased H/H (9s/20s)
decreased MCV (60s)

normal Iron (serum)
normal TIBC
normal transferrin sat

elevated Ferritin (500s) [with no other inflammatory signs/symptoms/findings]

I can't quite put my finger on what pathology this is (if any). Hemochromatosis would have an elevated transferrin, and not likely to have a microcytic anemia, right? Are there mutations where Ferritin can hang on to iron too well, depriving hemoglobin synthesis? (pretty rare, right?)

Some weird chronic disease state with something going on in the background.

 

[Mehena]

Alpha thal. Send alpha thal dna analysis. Normal hgb electrophoresis obv rules out beta thal but ferritin being elevated here is a red herring and likely unrelated to rest of iron studies/cbc

Generally speaking mcv that low in absence of obvious IDA is thalassemia until proven otherwise

I second this. If you want further confirmation, serum soluble transferrin receptor level test (sTfR) could give you some more clue about the iron status.