Pediatrician says beta thalassemia trait, can it be more than that?

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Hi, my sons got the H1N1 virus and suffered terribly with very high fevers, chest, cough, vomiting, diarrhea, chills, all of it, and it has been 4 weeks now, and although they are much better, they are not great. Their white cell counts are below 3, and through a blood test ordered by one of the many pediatricians filling in for our pediatrician who has been out for almost 2 mjavascript:void(0);onths, we were told they have beta thalassemia trait. Here is an example of one of their results:

 cbc test. RBC 6.25, MCV 60.5, MCH 19.6, RDW 17.2 Microcytosis 2+,
Ovalocytes 1+  Hemoglobin 12.5, Hematocrit 39.2, hemoglobin A 95, hemoglobin F <1.0, hemoglobin A2 5.0

All seem to have very similar results, except for the microcytosis 3+, hypochromasia 1+, polychromasia 1+ on one of them.

The doctor told me that the only reason i need to know that they have this is so they don't marry someone with it. He said there are zero symptoms and nothing to do.

Well, for years I have taken my boys into the doctors for things that have never been answered or explained and continue to persist

1. one of my sons has a slightly enlarged spleen which causes him abdominal discomfort, and in my opinion, the reason he never eats enough. He is very, very slim.
2. one has no enamel on his teeth and has bone deformities in his jaw bones where the teeth meet the jaw, actually we just found this out and still not sure if it is a deformity or actual missing structure?
3. fatigue all the time
4. shortness of breath, especially when running (soccer) or jogging.
5. turning white lipped and having tingling sensations in hands and feet
6. burning sensations in face arm hands legs and feet
7. tinnitus
8. hearing loss
9. gastro issues (pain, dairrhea)
10. always seem to take forever to get better from a cold or flu
11. severe headaches
12. one of my sons breaks bones easily (collar, elbow, wrist), and seems to always have something sprained. He is very slim, and has very long arms (in my opinion) and I am not sure if it is because he is so thin, but his shoulder area bones look strange to me lately, as does his face, it seems to have a slight slant in one direction lately)
13. All three of were, are late puberty guys. hey also all three had no teeth on their first birthdays. Doctor said it is all late, but means nothing.

I can't think of everything right now, but does any of this make any sense in a thalassemia world? And can there be more than the trait, if the trait is what we were told they have? Should they be taken for further testing? We live in Los ANgeles near the Children's Hospital, and I see there is a Thalassemia Center there, do I need to look further, or is the doctor right, and they just have the trait and there is nothing to do, and the things they have complained about are trivial nothing things like the doctor keeps trying to make me think.

Thanks

Thanks, and I am eagerly awaiting any helpful thoughts or information.

and several other things too, and they are not complainers either, so I know that when they come and tell me they are feeling this or that, it is real. The doctor always seems to disregard things



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Offline Andy Battaglia

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Re: Pediatrician says beta thalassemia trait, can it be more than that?
« Reply #1 on: December 04, 2009, 03:48:01 AM »
Hi sisrawi,

The thal center in Los Angeles is one of the top thal centers on earth. Do not hesitate to call them and explain that your children have been diagnosed with thalassemia minor, but their long term symptoms suggest it is more than thal minor and you would like to have them tested. A DNA analysis would be recommended to see if it really is just beta minor. The hemoglobin level and hematocrit are just slightly lower than normal and are better than many thal minors, so it does seem that there may be more than thal minor at the root of some of the problems. The weak bones are of special concern. This is not something associated with thal minor, although it is characteristic of the more serious forms of thalassemia. LA Children's is an excellent hospital, so even if it isn't all due to thal, it is a great place to get some answers. The enlarged spleen is often seen in thal minor and it shows there is some hemolysis taking place, which is destruction of the irregular shaped red blood cells noted in the report. Many of the symptoms you mention are commonly reported here by thal minors. Fatigue, shortness of breath, poor circulation resulting in tingling and numbness, the list really goes on. Most doctors will tell you that thal minor has no symptoms but the first study actually done on thal minors was released in 2008 and showed minors do get the symptoms of anemia and they concluded that more research about thal minors is needed. The report is attached to the post as a pdf file at
 http://www.thalassemiapatientsandfriends.com/index.php?topic=2769.msg26797#msg26797

Have they been tested for iron deficiency? This sometimes co-exists with thal minor. I ask because the MCV and MCH are quite low. A group of tests called iron studies can determine if this is the case. There is also some chance that alpha thalassemia is also involved. The gastro issues suggest something besides thal minor and with the weak bones, I wonder if there may be an absorption problem like Crohn's disease or Celiac disease. They really need to have full examinations. Their health problems are more than what we hear reported with thal minor, so it does seem like something else is also involved.

Thomas Coates, MD
http://www.childrenshospitalla.org/site/c.ipINKTOAJsG/b.3468855/k.E8EF/Leader_in_Pediatric_and_Adolescent_Health.htm
Children’s Hospital of Los Angeles
Los Angeles, CA


Contact: Susan Carson, (323) 361-4132
Director: Thomas Coates, MD
Address:
CHLA, Hematology/Oncology #54
Los Angeles CA  90027
Andy

All we are saying is give thals a chance.

Re: Pediatrician says beta thalassemia trait, can it be more than that?
« Reply #2 on: December 04, 2009, 05:10:33 PM »
Thank you so much, I have been trying to get an appointment with Dr. Coates, but pretty much unsuccessfully. I keep being told that all of the paperwork that I have sent to him will be reviewed and he will get back to us. I sent what I have several weeks ago. Basically only the blood tests and the ultrasound finding.

I went looking through the little files I have begun, and did find some testing on two of them  from 2007  . They had a comprehensive metabolic panel w/ EGFR. The only thing that highlighted as out of range was bun/creatinine ratio was high, all at 27, and with lipid panels, and one had high triglycerides at 180.  With the cbc's at that time, when the pediatrician said all is fine showed:

 RBC: 6.59                       5.45
 Hemoglobin 10.6             10.6
 Hematocrit 32.8               32.6
 MCV 68.7                        59.9
 MCH 18.9                        19.4
 MCHC 32.3                      32.4
 RDW 17                          16.4
 Platelet count 288             287
and then out of range absolute eosinophils,  1232          673

What would iron testing look like?would it be on these reports cbc, lipid, or comprehensive metabolic?

Back then, I insisted the doctor run blood tests on all of my children because I kept telling him that something is not right, he ran those and told me everything was fine except they showed allergies, and need to watch their diets with the cholesterol because triglycerides are "genetic", so they need to watch.

Here is a little background info on them :

Father: 100% lebanese, not present in our lives for 12 years. Had very bad hepatitis when young. Suffers from Bi-polar disorder, depression, and I think thyroid issues.

Mother: 50 % lebanese, 50% mix of italian mostly with some cherokee indian. gallbladder removed, atrial fibrillation bouts, skipped beats, slow irregular and rapid irregular beats, acoustic neuroma, hernia, Meniere's in right ear, many times told slightly anemic.

issues on mothers mother's side: heart, colon cancer, thyroid (hypo and hyper), autoimmune markers?, glaucoma,

issues on mothers fathers side: diabetes, thyroid, high blood pressure.

I made an appointment with a pediatric hematologist at UCLA for now, but should I just wait to hear from Dr. Coates (the person scheduling his appointments just sent an email this morning stating that he is out until the 10'th, but sent intake forms for me to fill out. Our appointment at UCLA is on the 8'th. I don't want to be told by another doctor that they are perfectly fine, when I KNOW for years that they are not.

I have also made appointments for two of them with a pediatric gastroentorologist that specializes in Intestinal Bowel Diseases on the 14'th, I too think something, maybe Crohns.

I am at a point right now where I am no longer willing to take "they are fine". I want answers, and I guess having that fill in pediatrician,(although he adamantly insists their having Beta thal trait means nothing more than information for future marriage) read the blood test results well enough to call it Beta thal trait, gives me somewhere to work from.

When i first posted my question, I had not read any postings, I was literally just looking for a place to post my questions and hope for some input, but WOW there is a wealth of information here, and you are the knowledge tank that is filling the site with so much help for so many. THANK YOU! MAY GOD BLESS YOU ABUNDANTLY FOR ALL OF YOUR EFFORTS IN ANSWERING EACH AND EVERY PERSONS QUESTIONS WITH SUCH KNOWLEDGE AND WITH A CARING PERSONAL TOUCH!

Selma





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Offline Andy Battaglia

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Re: Pediatrician says beta thalassemia trait, can it be more than that?
« Reply #3 on: December 04, 2009, 06:10:54 PM »
Hi Selma,

The iron studies would include tests like the ones listed below. The low MCV really makes me think there is something besides beta thal minor at work here and two possibilities are iron deficiency (which is more common with absorption problems) or alpha thal trait, which could moderate the beta trait, leaving a higher hemoglobin level than what might be seen with beta minor alone, but would also contribute to the low MCV. Of course, absorption issue possibility may explain a lot.

  * Serum ferritin measurement
  * Serum iron measurement
  * Total iron binding capacity measurement
  * Transferrin saturation index

With the genetic backgrounds you have described, I would definitely say try to get a DNA anlysis done. There are far too many possibilities with the ethnic backgrounds involved and the DNA analysis will discover whether or not there are any hemoglobinopathies besides beta thal minor at work here. Much of what is used for diagnosis is actually ruling out various possibilities, so whichever way the results come out, it will help with their diagnosis.

I would suggest going through with the appointment at UCLA unless you hear from Dr Coates in between. One problem with making appointments with these top thal doctors is that they are often off speaking at different conferences. (This is also one reason I like getting to the conferences, because it enables me to introduce parents and patients to the appropriate doctors), so sometimes it's a waiting game to see one.
Andy

All we are saying is give thals a chance.

Re: Pediatrician says beta thalassemia trait, can it be more than that?
« Reply #4 on: December 05, 2009, 06:19:42 AM »
Hi Andy,

Thanks for the information.

If it is an iron issue, that would be better right? If they do have the alpha trait and the beta trait, what would that mean health wise? They would still be trait only right?

So, I should be calling the pediatrician and asking him to order the iron tests on monday, so they will be available to whomever I do see?

Thanks,
Selma

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Offline Andy Battaglia

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Re: Pediatrician says beta thalassemia trait, can it be more than that?
« Reply #5 on: December 05, 2009, 09:18:03 PM »
HI Selma,

Alpha thalassemia trait often acts as a moderator of beta thalassemia, even with minor. An example of this is our moderator Sharmin and her husband who both are beta zero thal minors. Her husband also is an alpha thal carrier, and the alpha does moderate the beta zero. Sharmin's Hb level is much lower than her husband's even though they both have beta zero, which means that one gene produces no beta globin. Her husband has the co-existing alpha thal trait, which means he also produces less alpha globin. Because of this, his two globins are better balanced, resulting in a milder condition than what Sharmin experiences with only beta zero. However, there are also cases where there is a triplicated alpha gene and when this happens, there can be consequences to the health, so the importance of the DNA test becomes more apparent. Because of the symptoms and background, I really think a DNA test to see exactly which beta mutation exists and if there are any other gene mutations involved (like alpha thal) would be of great help in understanding if the conditions of your sons are related to thalassemia or some other problems. The weakness of the bones is a major concern and the cause does need to be found. Since this is one result of thal intermedia and major, further investigation is warranted. It may be related to some problem that is interfering with mineral absorption and may be exacerbated by the thalassemia, or it may have little if anything to do with the known thal trait. Only further testing and analysis will give you any answers.

Because the MCV and MCH are quite low, I do think iron studies would be of value. If there is iron deficiency, it may also be related to absorption issues. There may be dietary and nutritional supplement approaches that can help the boys but more needs to be known about why they have the health problems that are limiting the quality of their lives. Many of their problems are routinely reported here by thal minors (fatigue, shortness of breath, paleness etc) but some of the problems are not commonly seen with thal, so I do think there has to be something else also involved.
Andy

All we are saying is give thals a chance.

Re: Pediatrician says beta thalassemia trait, can it be more than that?
« Reply #6 on: December 09, 2009, 06:18:52 AM »
Hi Andy,

I just got word back from Dr. Coates office. Two of my boys are scheduled for blood tests only on January 29'th and then appointments with Dr. Coates on Feb. 26'th. I asked the person if dna testing would be done. She said, "no"???? Then I asked her what the names of the tests are that will be done, she got frustrated with me, asking if I wanted her to read each one to me, so I asked her to please just email of fax me the list. When I get it, can I have you take a look at it and tell me what you think. If I have to wait til Feb. 26'th to see Dr. Coates, wouldn't I want all possible testing done before then? It seems that it is not so easy to see him.

Also, our appointment with the gastro doc. is monday. two of the boys will be examined, one of them did not have any blood tests done when he got sick with the flu. Dr. Coates office does not want to see him, they said, just the others, the ones that tested Thal trait. Wouldn't they want to check him too????

Should I be asking one of the many fill in pediatricians to run the same test on him, as well as my daughter????

I did cancel the UCLA appointment.

Thanks
Selma

 

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