Some questions... two children with off blood results

This is my first post to this forum I am looking for some help because I have two sons who both have been diagnosed with anemia. Both of their blood tests have always said Possible causes: Iron deficiency anemia or thalassemia. I hadn't really considered thalassemia because noone else that I know of in my family is a carrier but neither of them is responding to our efforts to up their results so far so it's got me looking into it more.

Results for son #1, he is now almost 4 years old (neither of these are recent tests, he is having a new one done as soon as we can get to the lab with the requisition):

First test:
Hemoglobin - 81
Hematocrit - .29
Red Blood Cell Count - 4.72
MCV - 60.6
MCH - 17.2
MCHC - 283
RDW - 19.8
Also noted about red blood cells: hypochromia, microcytosis, tear-drop forms

Second test:
Hemoglobin - 96
Hematocrit - .303
Red Blood Cell Count - 4.98
MCV - 60.8
MCH - 19.2
MCHC - 316
RDW - 21.3
Also noted about red blood cells: microcytosis, hypochromasia, polychromasia, echinocytes, acanthocytes


Second son, current age 18 months:
Hemoglobin - 90
Hematocrit - 0.31
Red Blood Cell Count - 4.73
MCV - 65.3
MCH - 19
MCHC - 291
RDW - 18.9
Also noted about red blood cells: elliptocytes/ovalocytes, hypochromia, microcytosis


I don't know what to think. Neither has (so far) responded to iron. We all eat the same diet and my CBC comes back completely normal except my RDW is high (but I'm also B12 deficient). Even now at the end of another pregnancy my hemoglobin is normal. I am concerned about them (especially the older one) being anemic for so long. I do have low B12, as does my older son (or did at least at the time of the second test, it's never been retested since), and it's possible the younger one does as well though he's never been tested. I was told that that can raise RDW.

Anyone have any thoughts about whether this is more likely to be iron deficiency or thalassemia? I am very overwhelmed.

Alison

Hi Alison,

Pernicious anemia, or B-12 deficiency will raise the RDW to this range, as will iron deficiency. The range of the one son is higher than what is normally seen in thalassemia carriers, and the other is borderline (18.9). This does not rule out being thal carriers, but I believe it does suggest the investigation should begin with B-12 deficiency, especially since they have not responded to iron supplements. I would suggest testing both boys for this, and also to get some insight into whether they may be thal carriers, have a test called hemoglobin electrophoresis, which will determine their hemoglobin makeup. And fetal hemoglobin level (HbF) above 1 and an HbA2 level more than 2-3, would indicate the possibility of thal trait.

If neither parent has any history of low hemoglobin or hematocrit levels, it would suggest that thalassemia is not involved, as the boys would have received the gene from one of the two parents, and with their low Hb levels, it would be highly unlikely for the parent to never have had ongoing anemia. Your high RDW does suggest that you share the same problem as your sons, but there would be an expectation that you also would have low Hb if this is iron deficiency or thal trait. Because their Hb is much lower than normal and their RDW is high, it does raise the possibility of both thal trait and one of the other anemias being involved, although their experience with iron suggests iron deficiency to be more unlikely. I must note that sometimes more than one type of iron needs to be tried before iron deficiency can be ruled out, so this may also be tried by your doctor.

If nothing becomes clear after testing for B-12 and a hemoglobin electrophoresis, it may be necessary to have a DNA analysis done to look for hemoglobinopathies such as thal, as this will be definitive.

Thank you for the insight

It's quite possible that my husband has anemia and we just don't know it, but I don't and havn't.

In B-12 deficiency I was under the impression that the other values wouldn't be so off. For isntance that red blood cells are normally large rather than small, suggesting that there is more than "just" B-12 deficiency going on (or I could also be wrong about this... like I said I'm overwhelmed with information right now).

Thank you for your thoughts. They have given me a place to jump off from.

Alison

Hi Alison,

I do think if B-12 is involved, that it is not the only thing involved, because the low MCV and MCH would not be seen with B-12 deficiency alone. One other factor is that some of these tests can vary a bit, so the RDW may not really be quite as high as it looks, which would lead more to a thal trait diagnosis. I should also mention that with these levels, it could be beta or alpha thal trait. Again, an electrophoresis can help with this. If nothing is seen in an electrophoresis, alpha thal trait could still be a possibility, or it may really be iron deficiency that has not responded to the specific supplement they have used. If the RDW is really this high in the one boy, it may be a combination of thal trait and another type of anemia. 18.9 is the cutoff for thal trait vs iron deficiency, so it does suggest iron anemia, but again, some of these tests really rely on the expertise of the lab techs, so readings can be off a bit, which will make thal trait seem like iron deficiency.

Have you ever tried folic acid or B vitamins as supplements with the boys? Have they ever had a panel of tests called iron studies?

Hi FaithInHope,
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Best Regards
Take Care
Umair