2 year old with a new diagnosis

Hello everyone.  My name is Angie and my 2 year-old dtr. is Jazmine.  She was recentily diagnosed with thal minor by her new pediatrician.  She has experienced many illnesses and infections.  I began getting concerned about her health in August of 2006 and I asked her doc for blood work.  The results came back with anemia and abnormal red cell morphology.  The doc said it was nothing to worry about.  She continued on getting sick frequently and having fevers of unknown origin so I asked for more blood work in Nov. but they wre the same.  Then in Jan. of 2007 she became very ill so once again I asked for blood work.  This time the doctor telephoned me and said that "Jazmine had very interesting result."..... but still no answers.  Her results were low RBC and abnormal cell morph. Positive for Epstein-barre, high biliruben, enlarged spleen and liver.  There was no follow up recommendation.
In Feb. I found a new pediatrician because I thought my dtr. had leukemia.  He reviewed all previous labs and did a new cbc.  Results: iron def. anemia and thal. minor.  He put her on iron for one wk. and her rbc did increase.  Please someone answer just a few of my questions.
1.  Do I need to take my dtr. to a hematologist?
2.  Can thal. minor be diagnosed from just a cbc?
3.  Could thal minor be the reason she has been so sick?  The doctor that I took her to before told me it was just bad luck the way she kept getting sick.  However, I don't believe in luck.  I believe there is a reason that she gets so sick.  Please advise.
angie

Hi Angie and welcome to the group,

A CBC can indicate that thal minor is a possibility but it also is necessary to do further testing. A hemoglobin electrophoresis test will determine the percentages of the various hemoglobins and will give a much better idea of whether your daughter is a minor. Further tests are also needed to determine if she is iron deficient. A complete blood count does not give the whole picture.

You can read more about the various tests at http://labtestsonline.org/understanding/conditions/thalassemia-3.html

Iron studies. These may include: Iron, Ferritin, UIBC, TIBC, and Percent Saturation of Transferrin. These tests measure different aspects of the body’s iron storage and usage. They are ordered to help determine whether an iron deficiency is causing and/or exacerbating a patient’s anemia.

Occasionally iron deficiency anemia does co-exist with thal minor but this needs to be verified before any long term iron supplementation is undertaken.

Have you been told what your daughter's hemoglobin or hematocrit levels are? This is very important in determining whether it is the anemia or something else that is causing her sickness. A visit to a hematologist familiar with thalassemia may be of help. Let us know where you are located and we may be able to suggest a center in your area that is more familiar with thal. It is unusual that all these problems would be caused only by minor. It may be iron deficiency anemia or perhaps even a combination of the thal gene with another gene that is responsible.

Hi there!

My name is Courtenay, and I have thal minor with a lot of complications.  I'm 23, and just had my spleen removed because it was so big.  Its really unusual that a thal minor would have high bilirubin.  Is it possible that she may have beta-thal-zero or possibly be a thal intermedia? There could also be other Hb gene mutations coming into play.

Like Andy said, you should get the necessary tests done and make sure you get copies of them for yourself when the results come in.  It is very rare that a thal minor could have these complications, and its usually evident when iron-deficiency anemia is paired with it, or a more in depth diagnosis.  IMHO, I would definitely take your daughter to a hematologist.  They will know all the right tests and will be able to explain what all the results mean.  If your daughter is thal minor with an iron deficiency, it might be causing a lot of her infections.  I was very sick as a child as well.  Being low in iron is not good for the body, and being low in hemoglobin and hematocrit does not allow the body to heal as it should because the oxygen in her body is not reaching her organs at 100%, because some of the Beta globins on her RBC are mutated and not working efficiently.  Am I making any sense? 

Also, I would get yourself and your partner tested for thal.  If you both carry the trait, your daugher might be an intermedia.

In conclusion...I think a trip to the hematologist will help supremely in answering a lot of your questions and getting your daughter the proper care and diagnoses she needs.  Good luck, and please keep us updated.  It makes me so sad to hear of such a little girl with an enlarged spleen and liver! That can be painful...poor baby.

Courtenay

Oh! I almost forgot!! Epstein-barre is the virus that causes Mono! I tested positive as well! Mono can cause weakness, high bili counts, and an enlarged spleen! She might have a bad case of mono?

Good luck!

Courtenay and Andy, thank you for your replies. 
Let me clarify my comments on my dtr's enlarged liver and spleen.
They were enlarged at the same time that she tested positive for the epstein-barre virus.  The mono spot test was negative, but that it not a very accurate test for little children.  She may and probably did have a bad case of mono.  But that made me even more concerned.  I have been around little ones all my life and I have never heard of a 2 yr. old getting mono.  Normally with the Ep. St. Barre virus a toddler will display it with a common cold. Yet my dtr. was really sick.  That was my last straw with her doc and that's when I set out for a new pedi. When we went to the new pedi he only did a cbc and felt her stomach area.  He did not think her liver and spleen were enlarged and he determined this with touching her.  He did not do a repeat blood chemistry.  I do believe his assessment was accurate because my dtr. has stopped complaining about pain.  That is when I really started looking for answers because Jaz is alway getting sick.  However she does recover, but 2 weeks later it will be something else.  Andy we live in Tyler Texas.  Please let me know were the closest clinic that treats thal.  Her pedi tells me that he is taking care of her, but I want a specialist.  When he gave us the diagnosis of thal. he said "don't let it scare you.  It sounds worse than it really is."  I trust the pedi but I want someone who treats this everyday to see her. 
Thanks and I hope that I made sense.
angie

Hi Angie

Welcome to the group. I can advise from personal experience being a thal major and have been through epstein-barre virus,that your liver and galbladder become HUGE. You do / can suffer with pains in the liver region and there is nothing that can be done for it except for rest and relaxation. I know the little one is a little young to tell them to rest but perhaps reading and floor games to keep her a little rested. Also I drank heaps of water and just nibbled on food, more fruit and vegies easier for the liver to break down and not have to work as hard.

I hope this helps and I do hope your little one gets better.

Miaki

Hello Angie

Welcome to the site, i am sure you will learn a lot. I am a thal minor too with iron defiency , ut i don't have any other symptoms. My advice to you is to go to a hematologist. I wish i ca tell you more but there are things that i can't understand like the mono. Anyway keep us updated and wish you all the luck
Manal

Ps: Can anybody tell me what is the mono and how it relate to thal???

Manal-

Mononucleosis is a variation of the Epstein Barre Virus that causes fatigue, flu like symptoms, etc. for a long period of time.  Babies usually only show a cold, and sleep thru it, but adults can have a hard time and lose a lot of weight.  I would check the cdc.gov.  It can be dangerous for thals, according to my doctor, because if it gets serious the overpopulation of white blood cells can turn on the red cells and destroy them as invaders.

hi angie,
like you i had a 2 year old who was always getting sick, always in and out of hospitals.  I'd tell people that i had thal minor and would that be the cause of my son's pain and they'd tell me thal minor would not create a sick child- he was just getting child hood illnesses constantly and it was just bad luck.

well now we know what it is.  my thal minor and my husbands abnormal heamoglobin (sickle cell trait) created a child with sickle cell.

when you say your daughter gets sick what kind of sick?? pain, fevers, ?

keep persevering angiw as i believe no doctor can beat a mother's instinct.  we feel it inside when something is not right with our children.  good luck

vic

Thanks Courtenay for your reply, i guess that is scary...

Manal