Getting a diagnosis...

Here are my results:

hemoglobin A 96.4 (L) Norm 97.1-99.1

hemoglobin A2   3.5     Norm 0-3.7

hemoglobin F   0.1        Norm 0-1.9

hgb 10.8-11.5 (with my hemoglobin up to 11.5, I have more energy, BUT I still get out of breath easily, i.e, walking up stairs and hills)

hct 33-36

mcv 62.6

mch 20

mchc 31.9

As I mentioned, the hemotologist said it's like I  *almost* have the trait.  He's checking my bone marrow (I think to rule out internal bleeding) and then will either investigate or reconsider thal/another blood disorder based on the results.

I can see why the hematologist said that you "almost"  have thal trait. Your HbA2 is on the high end of normal and this reading is usually high in thal trait. Your Hb is a little low, as is your hematocrit, but again close to normal. Your MCV is definitely in the range one sees with thal trait as is your MCH. The MCHC is just on the low end of normal.

Sometimes it just can't be determined by blood tests alone. Family history is often used as part of the diagnosis and DNA testing will reveal not only if you have thal trait but also if there is some modifier gene that may explain the normal HbA2. I know this is frustrating but if the doctor does a bone marrow aspiration, he will be able to see if there is anything unusual about the bone marrow activity. If there is, further investigation of a blood disorder will be warranted.

There are hundreds of known beta thal mutations and also many other hemoglobin variants like Lepore, HbC and HbE. Not all are easy to diagnose and DNA testing sometimes becomes necessary to get an accurate diagnosis. We have a member in our group who had electrophoresis three times and never tested for anything unusual. Yet his child is a transfusing thal. Upon DNA testing it was discovered that he carries Lepore, which when combined with beta thalassemia trait, can result in thal major, as was the case with the founder of this group. My point is, that some traits are very hard to discover, so be patient as your hematologist tries to narrow it down, and please keep us posted on what is discovered.

Thanks for the perspective, Andy.  It's good to hear that he's making sense to you because I feel so confused and I was pretty scared by the bone marrow test.

I guess what I am wondering now is this:  if it is one of those undetectable things....could that still account for the lower hemoglobin when I was sick?  And would that make me out of breath?  I'm an active person, eat well, and am in general healthy shape so it's weird to me (and a bit scary) that I am having this lingering out-of-breath and easily fatigued thing.

One other interesting thing.  My bloodwork also showed a high result for Parvovirus antibodies.  And I discovered this after my GP had thought it was definitely thalassemia, so I googled thalassemia and parvovvirus and found an article stating that the combo of the two can cause an "aplastic crisis" in which the hgb drops suddenly (which is, of course, much more serious for the more serious cases of thal) .... but it sounded a lot llike what happened to me in Jan/Feb when I was constantly tired and when I was getty steady dizzy spells... which started this whole thing.  Have you ever heard of that?

I think the MCV is what most concerns him because he kept saying, why are they so small?  And I was like, well, my hgb came up a bit, isn't that good?  LOL

Parvovirus would explain all your symptoms, including the low platelet count. It also causes a drop in red blood cell production in anemias. The bone marrow test is most likely to see what changes the parvovirus has caused in the production of blood cells. Commonly it causes suppression of the bone marrow and changes in the blood cells, and if it is still active in your system, this will be revealed by the bone marrow test. After reading about the variety of manifestations of the parvovirus infection, and what newly discovered cases have added to the understanding of its effects, I won't be surprised if the virus is at the root of everything. Thalassemia trait could possibly be involved but not necessarily. Many thal carriers never realize they are carriers because it can be completely asymptomatic under normal circumstances. Infection with the parvovirus can cause a drop in hemoglobin levels in any anemic case. In cases where a serious infection persists, it may be treated with prednisone and/or intravenous immunoglobulin therapy (IVIG), but this is very costly and has its own side effects, so I believe it is reserved for serious cases. In your case, it may subside on its own. The bone marrow test should tell if any further action is needed. If your red cell production in the bone marrow has returned to normal, you will probably be feeling like you're back to normal within a couple months.

Well, the doctor didn't mention the parvovirus...it was just that article that I read after I saw the high result on the blood test and my gp's diagnosis of thalassemia...but the article made it seem to me like it literally toyed with hemoglobin levels.

It's interesting that you think it could account for the low platelet count as well. 

I think I have to find a subtle way to bring this up to the doctor.

As for the bone marrow test, I didn't fully understand it, but he said something along the lines of looking for iron in the marrow...it seemed like he was saying if iron was in the marrow, it would indicate a blood disorder, but if it was not, it was being lost somewhere which would indicate internal bleeding.  At least, that's how I understood what he was saying.

Back to the drawing board...

Well, the good news is that my blood marrow test came back normal (so that means no colonoscopy or other test involving a scope, which petrified me)....

So the hemotologist opted to do another hemoglobin electrophoresis, saying I may have some weird variant disorder and that he may have to send me to a special lab for testing, but that it shouldn't affect my life.

Now, here's my question...with any of these variants of thal, could it account for the easily out of breath, fatigued feeling I have had?  Is this a product of the small red blood cells?

I certainly don't want any more tests than are necessary, but I'd just like to know that I shouldn't be concerned about my symptoms.

Any insight would be appreciated.  Thanks. 

Hi Dahlia,

There are some hemoglobin variants that are not easily seen through electrophoresis and may require DNA analysis to uncover. And we do see many people who are carriers of thal who get similar symptoms. If the electrophoresis doesn't show any variant, ask the doctor about a DNA test (check your insurance to see if it's covered, also).

With your bone marrow test showing normal, I think it is likely that the parvovirus had aggravated your situation temporarily, as it does cause a suppression of bone marrow activity in those who have any type of anemia. With the virus clearing, your bone marrow activity would return to normal. It does take a few months for your blood to be fully restored after a drop in hematocrit, so hopefully you will find yourself back to "normal" soon. Folic acid may be of help as a daily supplement.

Thanks, Andy. 

That makes a lot of sense.

I was also looking through the bone marrow results and while I didn't understand most of it, I did see that the evaluating doctor wrote in:  the preserved red cell mass, coupled with the low MCV, favors thalassemia.

So I guess now I wait for the second electrophoresis result.

Do you have any suggestion as to how many miligrams of folic acid I should take for just starting out and giving it a try?  This is something I could pick up over the counter at a CVS, correct?

thanks.

Hi Dahlia. One mg of folic acid daily is a good start. You should be able to find it anywhere. It's one of the most commonly found supplements because all women who are pregnant and even women who might become pregnant in the future are advised to take it.

The saga continues...

So, my recheck of the hemoglobin test came back with elevated A2 levels--this time with the reading at 4.5, which the doctor said did indicate thalassemia minor.

He wants me to come back for another hemoglobin electrophoresis to verify.

So, I have started taking the folic acid the meantime....because I felt really bad last week.  So, as recommended, I picked it up and am giving it a shot.

I was looking at "thal numbers" on some sights.  I noticed that my MCV seems to be lower (about 62) than most thal minors.  Could this have something to do with issues this year--or does the mcv measurement tend to vary amongst thal minors?  Anyone know?

hope everyone is well.


dahlia

MCV does vary a lot in minors. The range for minor is 6-75. With your MCV that low and HbA2 that high, it does indicate thal minor. The electrophoresis should be able to confirm.

I am utterly speechless.

I got a message from my doctor that said my third hemo electrophoresis came back "normal."  He said it shouldn't be that way because it should be coming back positive or negative; it shouldn't be fluctuating...so he wants to see me again.

He said he wasn't concerned but wanted to talk in person.

Has this ever happened before?  Do the tests sometimes come back positive and sometimes negative?

Just when I thought things were figured out....this throws me a curve!

If all three tests have been done at the same lab, you might want to try a different lab.  An HPLC test can also be used and because of the variance in the prior tests, HPLC might be able to confirm one or the other.

So, I just got my third (or maybe fourth) electrophoresis test results back....

A2: 6.5

A 93.5

The doctor thinks I must have thalassemia...since two of the tests indicated it, and one was borderline...

Here is my question for the group.  Is it NORMAL for the electrophoresis tests to have varying results like that?   Even the two that positively indicated thal minor were DIFFERENT results- A2 of 4.5 on one and 6.5 on another.
Is this something I should be worried about?

Thanks.

-dahlia

Dahlia,

It probably isn't even you. It is most likely the result of a lab technician not familiar with the various types of hemoglobin. HbA2 of 6% definitely indicates thal minor.