Could my six year old son have Thal Minor?

I hope that some time next week, I will have a more conclusive answer to my own question (waiting to get the order for more lab work), but for the agonizing moment, I'm left wondering what is going on with my son, Hugh.

I initially took him to the doctor over four months ago because I was worried about his size (he weighed only 39 pounds when he was six and a half), his behavior (he is very irritable), and pale. I'm so glad that the dr tested his hemoglobin, because it was 9.7 that day. She started us on an OTC children's multivitamin with iron and we retested a month later. It was still low, so we did a CBC and a celiac panel (negative). Based on the results, she wanted us to give him fer-in-sol, but because I couldn't find it, I gave him Kidz Iron 10 (10 mg elemental iron), which turned out to be the wrong amount, but the office test did go up a little the next time (I believe it was 10.4). So, we did another CBC and an iron panel. In those two months, he had put on around 3 pounds, but he still was very irritable and easily tired.

Our next step was to give him 9 mg per day of ferrous sulfate for a month (she prescribed it this time so there would be no misunderstanding). When we retested last Tuesday, I was sure it would be normal, but I was shocked when the first time, the in office test was 10.2. They rechecked it, and it was 9.1! Does anyone know why there would be such a difference?

So, since he didn't respond to the iron, she thinks that he might have a blood disorder, and she mentioned Thalassemia. She is supposed to talk to a hematologist tomorrow (they've spoken before about Hugh, and they both initially thought it was mild anemia caused by diet since we are vegetarian). I know she wants to run the Hemoglobin Electrophoresis test, and I want to ask her if we could pull some extra blood and store it in case we need to do a DNA test as well.

Do you all think that his values look like a typical Thal's? I've been reading many of the posts here, and I'm not sure that it matches up, but it is such a complex disorder. We're lucky that he's overall pretty healthy, but I am concerned that he is so small compared to his brother and sister, that's he's so irritable, and that even his tooth development is delayed (he hasn't lost a baby tooth yet). Thank you in advance for your insight.  Stacy (and Hugh!)

Ferritin, Serum 34         30-400 ng/ml (reference range)
Iron binding cap (TIBC) 310     250-450
UIBC 235                   150-375
Iron, serum 75                11-150
Iron saturation 24        15-55

WBC 7.9
RBC 3.97
Hemoglobin 10.8
Hematocrit 32.6
MCV 82
MCH 27.2
MCHC 33.1
RDW 13.1
Platelets 407
Neutrophils 40
Lymphs 52
Monocytes 6
EOS 1
BASOS 1
Neutrophils (absolute) 3.2
Lymphs (absolute) 4.2
Monocytes (absolute)  0.4
EOS (absolute) 0.1
BASOS absolute) 0.0
Immature Granulocytes 0
Immature Grans (ABS) 0.0

Reticulocyte count 1.0

I also have his first lab work results from November, but I didn't want to make my first entry any longer than it already is! 

Hi Stacy,

on the forum,Hugh's hemoglobin does seem to be in thalassemia minor's range,and since his iron levels are pretty good,i am assuming that he could have thalassemia minor,and his easily getting tired is another clue,but of course Hb electrophoresis will tell you for sure.

And if he has Thalassemia minor,he must have inherited it either from you or his father,in my opinion if Hugh's test comes back positive,you both should get tested too,have you had any history of anemia,or severe anemia during pregnancy?

In thalassemia minor iron rarely helps to raise the hb,unless there is iron defficiency anemia present along with Thalassemia minor,which for Hugh doesn't seem to be the case,so extra iron would just be stored in the body which is not good.Instead you can start giving him folic acid which will help.

Thats my two cents plz wait for other member's advice too,and feel free to ask as many questions as you want .

Kisses for Hugh

Zaini.

Thank you, Zaini, for your welcome and reply!

I'm at a loss about this possible diagnosis, because we neither one know of any family history (my husband is English/French and my heritage, like many people in Texas, is English/Irish etc...). I think I did have some anemia during pregnancy--I should remember that!--but nothing spectacular. I've thought that since my mother-in-law is from France, that maybe there is a link there, but she doesn't know of any family blood disorders.

Thank you for mentioning the iron risks--the dr wanted me to continue him while we wait for more information from the hematologist, but I wasn't sure it was the right thing to do. He was so disappointed too to have to take it!

I thought that maybe some of his values, like the MCV, MCH, and MCHC might not match thalassemia. I suppose there must be many other possibilities out there. Sigh. It's so hard not to know, so I'm very grateful for your response. I definitely want to try folic acid.

Stacy 

Stacy and Hugh,

Have there been any comments attached to the reports that describe the size, shape and color of the red blood cells? These test results are marginal at best for thal minor. The MCV is at the very high end of thal minor. MCH is higher than would be expected. The RBC count is lower than normal and would be higher in thal minor. The retic count is normal and should be higher. Some of these readings could be affected by the iron therapy, so more information is needed. Test results before the iron therapy would give a comparison and any notes would be helpful. As Zaini mentioned, a hemoglobin electrophoresis would give a clearer picture of whether thal minor is involved. Other possibilities are folate deficiency and especially being a vegetarian, vitamin B deficiency (pernicious anemia) should also be investigated. I also happen to be vegetarian and a daily B Complex vitamin can be of benefit. However, pernicious anemia can be caused by a lack of intrinsic factor, and supplements alone won't solve the problem. If this has not already been ruled out, it should be investigated if this does not prove to be thal minor. Notes with a blood test may mention the types of red cells found. Small irregularly shaped pale cells indicate thal minor. In pernicious anemia, large immature red cells will be noted.

This shouldn't be too hard to diagnose once an electrophoresis is done. A one month trial of iron should show solid results if iron deficiency is present and Hugh didn't respond significantly. Iron is most likely not the problem. And to answer the Hb question, hemoglobin levels vary throughout the day, vary with hydration levels and results will vary from lab to lab and even tech to tech, so the differences noted are not necessarily significant. If Hugh was better hydrated at one test than the other, the well hydrated test would show a lower Hb level. It has no real meaning at all in terms of actual Hb level.

Dear Andy,

Yeah--I was so happy to see your response! I'm hoping Hugh's pediatrician will call tomorrow, so I will ask her about some of these points that you've raised. We will do the electrophoresis test as soon as she orders it.

I looked again at his two reports and neither one has any comments about the size or color of the cells. The nurse who did his hemoglobin test on Tuesday did comment on how pale his blood was--that was the first time anyone has said that. It was weird about the two different HB results, too. It was the same nurse, drawing from the same finger, within 5 minutes of each other!

Unfortunately, I don't have any blood work from before we started iron. I do have the report from November and will paste it below. But, this was taken after a month of an over-the-counter children's vitamin with iron.  The only other things about Hugh that have ever come up health-wise are speech delay and an allergic response to Ibuprofen and penicillin. And he has red hair.

Thank you again--I'm so grateful for your input. Stacy

Hugh's Labs  11/17/10

WBC  8.8          Range: 4.8-11.4
RBC 4.03         3.96-4.96
Hemoglobin 10.7      10.9-13.5
Hematocrit 32.8       32.4-39.1
MCV 81         75-86
MCH 26.6         25.5-29.9
MCHC 32.6         33.0-36.0
RDW 13.5         12.3-15.1
Platelets 424      150-440
Neutrophils 48      22-60
Lymphs 46         28-66
Monocytes 5         3-10
EOS 1            0-4
BASOS 0                 0-2
Neutrophils (absolute) 4.2   1.2-5.2
Lymphs (absolute) 4.1           1.6-5.6
Monocytes (absolute)   0.5   0.2-0.8   
EOS (absolute) 1              0.0-0.3
BASO  0.0                 0.0-0.3
Immature granulocytes 0   0-1
Immature grans 0.0      0.0-0.1


Reticulocyte count 1.0     0.5-3.0
BUN 14                 5-26
BUN/Creatinine Ratio 41   8-27
Sodium, Serum 138      135-145
Potassium, serum 5.3           3.5-5.2
Chloride, serum 104      97-108
Carbon Dioxide, total 21   20-32
Calcium, serum 9.9      9.1-10.5

Sedimentation Rate, wetergren 6    (ref range 0-15)

Last Tuesday, when my doctor dropped the "T" bomb, she said she would talk to the hematologist to see what other tests they would want to do besides the hemoglobin electrophoresis . The hematologist finally called her this morning, and instead of doing more blood work now, they are "very interested in evaluating Hugh." Luckily, they can fit him in on Feb 3rd, but it still seems like an eternity.

In the meantime, the pediatrician wants us to continue giving him the ferrous sulfate. My concern is that if he is not iron deficient, is it dangerous to continue giving him iron? Do you think it would be safe to give it to him until the 3rd? Here's his iron panel results again:

Ferritin, Serum 34                  30-400 ng/ml (reference range)
Iron binding cap (TIBC) 310     250-450
UIBC 235                              150-375
Iron, serum 75                      11-150
Iron saturation 24                  15-55

I think I'll hold off giving him any other supplements so that when we do his next lab work, it will reflect his natural state. Thank you so much for your support--I'm going out of my mind with worry! Stacy

Short term iron won't cause any damage, but since every single iron test is within normal range, you might want to question why iron is being given.

Thanks so much, Andy. I wonder what her thinking is, too.  The only good that has come from the iron is the three pounds he gained during the first couple of months we started a low dose of iron, but he's since dropped about 1/4 lb and his hemoglobin certainly has barely changed.

Thanks again for your quick response! Stacy

He may have been deficient in iron earlier and the supplements have done their job, or he may just had a coincidental growth spurt. I would really expect to see a higher TIBC if there was still a problem. I agree with getting a baseline for test results before you try anything else. I would suggest including vitamin D in the tests. Researchers have been astounded in recent years as testing D levels have become more common. I have seen reports suggesting that 1/2 to 2/3 of the population of earth is deficient in vitamin D, even in hot sunny places because people avoid the sun so much, and as a result don't get the amount of exposure to sun needed to maintain D levels. It took me two years of supplements and summer sunshine to get to a normal range.

We *finally* had Hugh's appointment with the hematologist today. It was supposed to be a week ago, but the snow and ice were too bad for travel (Texas is never ready for this sort of thing!).

We're now waiting on his test results for the hemoglobin electrophoresis, coombs, thyroid, and kidney function. He did a cbc in the office as well and thinks everything looks normal and he doesn't think it's thalassemia, either. We got to see his red blood cells under the microscope, and they looked great. His hemoglobin was 10.2 with their test, and he said that sometimes, being lower than the range is normal for that person. But, I'm wondering if this is "normal" for him, why does he look pale, is so irritable and small for his size? I had all these questions to ask the doctor, but as soon as I'm in a doctor's office, the questions evaporate!

I didn't get a copy of today's results, but they did write down that his WBC was 5.8 (7.9 previously), PLT 313 (it was 407 before), and his ANS is 2220 (3.2 before).  I thought that was an awfully big difference for the first two, but I understand that different equipment can get different results.

Thanks again for all of your support--I'll post when I get the news. Stacy   

Hi Stacy,

I find if I take a short note with questions on it with me when I see the doctor, that I don't forget the questions and my doctor makes sure I ask everything I want to once he sees I made a few notes.

The low Hb is puzzling. I think there may have been a coincidental iron deficiency that has been corrected but the Hb should be higher and there should be an explanation for your son's slow growth. Reviewing the test from November, I noticed this one value is quite high. "BUN/Creatinine Ratio 41   8-27" Was there any comment by the doctor on this and why it's so high? This can indicate a kidney problem and this can affect growth. I'm not saying that this is the case. I am saying that the BUN/Creatinine Ratio needs an explanation. Because one other possibility is anemia of chronic disease (AOCD), and this is diagnosed by ruling out some other possibilities and certain test scores, it may be necessary to rule out a kidney problem to narrow the diagnosis. There may be an explanation for the high BUN/Creatinine Ratio, so this is definitely a question to ask. AOCD might be suspected in a case like this but the iron saturation is normal while it would normally be over 50 in AOCD. AOCD can have many causes, but the anemia clears up once the underlying problem is treated. Even a chronic low grade infection can be responsible. With a low Hb a higher Reticulocyte count would usually be found, except with AOCD, so this is why I mention it. Most anemias will stimulate the bone marrow to produce more red blood cells and this would be seen in a higher retic count, so this may rule out hemolytic anemias like thalassemia. I would start by asking about the BUN/Creatinine Ratio and see if the doctor thinks any test of kidney function is in order.

The white cells and platelets are all normal readings and these vary greatly. I would say from sample to sample there is quite a variation in these levels, so every test can yield different results.

The only thing I brought with me for this appointment was my list of things I wanted to test for--I'm so bewildered by the results so far, that I couldn't think of anything else to ask about, except to ask how his spleen felt, did he think it was thalassemia, and if we could go ahead and stop the iron (he said yes!).  When he said that this HB might be normal for him, he called it "constitutional anemia," but I think he means in a general sense, like inherent, because I don't think he mean constitutional aplastic anemia, which is the only thing I can find in my internet research. He also said that Hugh would NOT have any symptoms with mild anemia, and I thought some of the members of this board would find that interesting!    He was nice enough to let us look at Hugh's blood under the microscope, and while all of the cells looked nice and round,  I did see a few that looked like a crescent shape, but he said that this was normal and happens when preparing a slide. I think he called them fractured cells. I noticed them because they reminded me of images I had seen of sickle cells.

He seemed to think that the BUN/Creatinine ratio was fine (?), but he did order a kidney function test. That's a great point you made about the possibility of a low grade infection. I'll add that to my list of questions next time!

Thank you so much for using your knowledge to help people. Hope you have a wonderful weekend, Stacy

It's been a week since Hugh had his blood work, so I finally called the nurse about lab results. The first nurse said she couldn't tell me anything because the doctor has to look at it first, and he's out of town until Monday! Ack!  Later, a nurse called and left a message to tell me that the hemoglobin electrophoresis test came back normal. So, it looks like it's officially not Thalassemia.

Thank you to you all for letting me be part of your discussions and for lending me to support through this process (although it's not over yet). Wishing you all best of luck and good health, Stacy

Stacey,

I am glad to hear Hugh's results came back normal, .

Zaini.

Just had to check back for one more peek. 

Thank you, Zaini, for your good wishes! I just talked to the nurse and his other tests (kidney, etc) also came back normal. I feel very lucky and very perplexed!

Best wishes to you! Stacy