13 mo old, questions about trait, minor, & intermediate...

Our 13 mo old son had his iron routinely tested last month when we went to a local health department to have his lead levels tested (we did this only as precaution due to remediation going on in our community for lead levels in the soil). His lead levels were low, no issue there. However, his iron test came back immediately with a result of 7. The lady retested to make sure it wasn't due to not enough blood on the sample making it into the little machine. The retest came back right under 9. They referred us to our pediatrician who we coincidentally had an appt with already for the next day. His pediatrician, a pretty smart guy, said to hold off on iron supplements until we new what the cause of the low hemoglobin was. He ordered a complete blood count. They called us and told us that our son had Thalassemia Trait and we didn't need to worry about it at all, because he wasn't having any other issues right now. The 'right now' left me in a land I believe no parent wants to be, lol. I looked it up myself. I tried to get a referral to see a pediatric hemotologist, but the doc office felt that seeing a pediatric geneticist would be more appropriate. I agreed and we have an upcoming appt next month with one.

What I am wondering is, are there any parents or known cases of someone being told they had Thalassemia Trait only to find out they had Thalassemia Minor or Intermediate? I ask, because our son has had fairly strong reactions to some medications that we have read are more common happenings with Minor or Interm. He has had an allergic reaction to a sulpha antibiotic and when he was given breathing treatments with albuterol his hemoglobin level was at its tested lowest (around 7). We know that there are some blood disorders in our family history, but his dad and I have not been tested yet to see if we are carriers, etc. His great-great paternal grandfather had Polycythemia vera. I am of Italian heritage and my husband is of Native American heritage.

Any thoughts on this would be greatly appreciated.

Thanks.

If it is beta trait, that is the same as beta minor. With Italian heritage, beta is more likely. However, the drop in hemoglobin, hemolysis that occurred after sulfa drugs is more characteristic of alpha thalassemia or G6PD deficiency. Has a hemoglobin electrophoresis test been done yet? Do you have the results of the CBC?

Hi Andy,

Thanks for your reply! The CBC results were received by our pediatrician, it was his nurse that called us and told us that our son had Thalassemia Trait. We were given no other information about the results. After I looked it up myself and had questions I called them back and asked if the CBC showed if it was alpha or beta...that's when the nurse told me that their lab did not differentiate between the two, just gave them results stating he had the Trait and we didn't need to worry right now, because he wasn't having any other symptoms.

I am not sure what to expect from our visit with the pediatric geneticist, but we still have a little over a month before our appointment. I now have a better idea of tests I might request if they do not bring them up

If an electrophoresis has not already been done, it should be done now. If you can get copies of the tests, CBC and elecxtrophoresis, I would like to see them.

Hi Andy,

I am going to contact the lab today and see if I can get a copy of his CBC results, and ask if any other tests were performed at that time. I know the doctor only ordered the CBC, would they have been able to do the electrophoresis, if they had concerns, without taking additional blood?

Thanks

At this point, a new blood draw would most likely be needed.

Unfortunately, I am unable to just scan the actual CBC right now, but I have the results here...

Procedure           Ref Range        Results

WBC                   4.8-10.8           11.0 H
RBC                    4.70-6.10           4.97
HGB                   14.0-18.0            9.4 L
HCT                   42.0-52.0           30.1L
MCV                   80.0-94.0           60.6 L
MCHC                32.0-36.0            31.0 L
RDW%              11.0-15.0            16.9 H
Platelet Count      130-400            489 H
Bands    %             0-5                      0
Segmented Neutrophils % 50-70        23 L
Lymphocyte   %      25.0-40.0          71 H
Monocyte %            3.0-8.0              04
Eosinophil %          0.9-4.0                02
Basophil %            0.2-1.0                 0 L

Comment 1                       Platelets Adequate
Hypochromasia                          1+
Microcytosis                              1+

The end notes show that L = Low and H = High

This was all on the CBC, and it was the only test that they ran.

Any perspective on this would be greatly appreciated

Thanks.

The Hb, MCV, MCHC and RDW all support thal minor. A hemoglobin electrophoresis should be able to discern if it is alpha or beta thal. In most states, newborns are tested at birth for hemoglobinopathies. This usually will detect hemoglobin Barts is alpha carriers. Do you know if anything was noted at birth?

Hi Andy,

The nurse at his pediatrician's office actually told me that she went back and pulled his birth record from the hospital to see if they noted anything unusual then and just did not tell us. There was nothing noted regarding his blood count. When he was born they were most concerned with his blood sugar levels (I had gestational diabetes with that pregnancy, controlled with diet & exercise) but he was only slightly low one time and then he was good there, shortly after he was born (within 24 hours), he developed a collapsed lung (we felt due to him not being suctioned properly after he was born via c-sect), and we were transferred to another hospital NICU where he was put on oxygen, etc. until it healed. I do know that the second hospital repeated much of the newborn lab work, because it was in another state and they had their own procedures to follow. I may need to contact the second hospital and inquire, although, if there was anything noted they did not share it with us! Around six mo. he had pneumonia that seemed to come out of nowhere and then right before his first birthday he got a cold-like virus that came on very fast and very strong and that is when his oxygen level was low and they started him on breathing treatments with albuterol (telling us he may be a lifetime user). We are doing our best to keep him from getting sick again before his upcoming appointment with the geneticist, as I am unsure how the albuterol may be effecting him!

Thank you

The blood test at birth usually can spot alpha carriers, and this information is routinely shared with parents, so alpha seems unlikely. However, as I mentioned, the reaction to sulfa drugs is more common with alpha thal and usually the 3 gene affected HbH disease, but this would most certainly be noted at birth. The condition in which sudden hemolysis occurs is called favism. It can be caused by consumption of broad beans like fava beans and also by exposure to many drugs, sulfa drugs included, and chemical fumes like moth balls and many chemicals that have strong vapors. In addition to being found in alpha thal, favism is also found in G6PD carriers. I feel that the cause needs to be investigated, so that sudden attacks of hemolysis can be avoided. The various lung problems may all be solely related to asthma, and hopefully the worst of this will pass with age. I have several asthmatic children and only one has carried it past childhood and his is exercise induced asthma and can usually be controlled by taking the inhaler before activity. My middle son had the worst asthma of any of the kids and was hospitalized in the ICU twice, once near death. As he grew older, his asthma has pretty much disappeared. I am hoping you see the same pattern as he gets older. Albuterol is no longer considered the first line of defense, as preventive drugs like Advair have become more used. If the breathing issues persist, a daily med may be prescribed so that albuterol is not used so often, as daily use of albuterol does cause nervousness.

Well, I went and picked up his medical records from the NICU hospital today. There are differences, but maybe you can make more sense out of it then I can, some of the procedure titles are different, etc.

Proc                  Ref                        Result

WBC                9.0-30.0                   15.6
RBC                 4.4-5.8                      4.41
Hgb                 15-21                       15.6 (lower end of normal but not labeled low)
HCT                 44-64                      43.8 L
MCV                96-108                      99.3
MCH                 32-34                       35.4 H
MCHC               32-33                    35.6 H
RDW                 12-14.5                  16.2 H
Platelet Count    140-300                  265
Plt Est               Adq
MPV                 9.5-12.5                  10.4
Seg                  32-62                      74 H
Band/Stab            0-18                      1
Lymphs              26-36                     20 L
Monos               0-6                           5
Aniso                Occasional
Macro.              Occasional
Polychromasia     Occasional

This CBC report did not have any notes or other information other than patient identifiers/date, etc.

I noticed some obvious differences, but not sure they mean anything, such as his Lymph being low then and high now and his Seg being high then and low now...it seems they have flip flopped.

I really appreciate all of your time and info. Thanks so much!!!

This last report has values that are completely different from the other report. This report is for a normal person, without thalassemia or anemia. Something is wrong here. In fact, the reference ranges don't even match between the two reports. This new report uses reference ranges that do not seem to be normal. There has to be some error with the new report.

Hi Andy,

Maybe I needed to label these a bit better, sorry. The first CBC I posted is his current one that was just done. The last one I posted was his CBC that was done right after he was born at the NICU (I only saw these for the first time yesterday when I went to pick them up from medical records). So the CBC I posted yesterday was his first one after birth (2 days old), the one I posted back around the 11th or 12th of this month was the one that he had done 2 weeks after turning 12mo (he is now 13 mo).

Hope this clarifies the difference. I was just posting the his first CBC after birth to see if you noticed anything wrong at that time. The two CBC results I have posted were done by different labs through different hospitals, if that helps make sense of the difference in ref ranges used.

I was wondering something else also, after going over family ethnicity with my family one family member mentioned that I would want to let the geneticist know that I am of Jewish decent...do you know if Thalassemia in Jewish people would be of more or less severity than if it came from Mediterranean heritage? I have read some things lately that suggest there may be a difference in severity of Minor depending on what geographical region a persons ancestors were from.

Thanks.

Thanks for the clarification. Newborn blood values are a different range, so it all makes sense now. There isn't anything in the birth CBC that would suggest thal minor, but this is normal for a newborn. It seems likely that if they did a CBC at birth, that they would also do a hemoglobin electrophoresis test, as this is much more useful for diagnosing hemoglobinopathies at birth tan a CBC. Percentages for HbA, HbF and HbA2 would be given, along with a percentage of hemoglobin Barts, if present. However, it is not as useful for diagnosing beta minor at birth, so an electrophoresis now would help provide a better diagnosis. I am concerned about the reaction to sulfa drugs and wonder if G6PD deficiency testing should be done. If alpha thal is ruled out, this is something that should be considered.

Thank you so much for all of your knowledge and suggestions for further testing! My hope is that the geneticist will automatically think of these tests on his own, but if he does not I will certainly be proactive and ask for them. During my pregnancy with him I was diagnosed as protein S deficient and positive for MTHFR gene mutation (possibly an explanation for the many miscarriages I had in between healthier pregnancies that resulted in our oldest son and daughter). Once we know exactly what form of Thalassemia or other blood disorder we are dealing with, will the geneticist naturally test our other children, or do the parents generally have to start back at square one with their pediatrician for each child? Our daughter had good iron levels as a toddler, but I would like her to know if she is a carrier of any gene mutations, etc. that may be relevant for her and her future children.

With appreciation,
Sarah