new here and would love your experienced advice!!!

Hello everyone...Im new here and hope to become a regular!!!
My husband and I are both beta thal minor. I have 2 kids and the younger one, my son, recently started showing alot of signs for thal like abit of jaundice, poor appetite and a slight protruding forehead.  But other than that he is healthy and plays well all day. I started to wonder if he had thal intermedia since he is almost 3 without ever having transfusions or being sick.

anyways so I went to the doc and asked them to check his hb.  Turns out it is quite low and so he did the hb electrophoresis test. I was expected a beta related diagnosis either intermedia or major so I was abit surprised to hear him say it's alpha thal?  I'm wondering if it's a mistake. We are actually from canada but a few yrs ago moved to saudi arabia. The doctor didnt seem like he knew too much about thalessemia and made it seem like his results are not too bad and just prescribed him 1mg folic acid everyday.

I plan to redo the tests and get a second opinion, but I dont think there are many thal experts here and not sure if the second opinion will be of much help either.  I will probably try to move back to canada in the near future just because of this, because I feel like I can't trust the system here and I want the best for my son.

Anyways sorry for the long story, I was wondering if all the experienced members could look at my sons results and tell me what you think. Does it really look like alpha??? Do you agree I should get it looked at by more doctors?  Do the results look more like intermedia or major? And finally, what would you suggest in terms of supplements I can give him other than folic acid [and is 1mg a day enough?]



Btw he's 2.5 yrs old, will be 3 yrs in october. He weighs about 10.8 kgs.

Hb levels: checked 3 times so far, they were 7.6, 7.0, and 8.1

HbA   14.91%
HbF   83.37%
HbA2    1.72%

Thanks so much for everyone's help!!!

I assume hgb is measured in gl/dl? Hgb is low but seems to be a bit steady. We should wait for others.

Hi Adeela,

If you look at the chart below you will see that your son's values are definitely those for an intermedia. I am surprised no doctor noticed the extremely high HbF and extremely low HbA. Alpha thals would have very low if any HbF, and even in HbH disease, which is 3 gene alpha thal, the HbA level is 60-90%.Your child is definitely beta intermedia and needs a different doctor.
You can see a list of hospitals in SA that treat thalassemia at
http://www.thalassemiapatientsandfriends.com/index.php/topic,1104.msg10219.html#msg10219

I am concerned that your child's development may be lagging  and that bone development is hindered and becoming and bone deformities may occur if this child is not provided with proper care. He should be evaluated by a doctor who treats thalassemia.


Hb type      Normal              Major         Intermedia         Minor
HbA                 96%-98%            0             10%-30%       92%-95%
HbF                  <1%                95%-98%      70%-90%       0.5%-4%
HbA2                2%-3%         2%-5%            2%-5%        >3.5%

Thanks Andy!!!
I was suspecting the same thing. I will definitely try a new hospital and doctor. Problem is the hospital we know with a good hematology department in this city is a public one for citizens and govt employees only. So we cannot be treated there, but I'm going to search all the hospitals nearby.

Can someone tell me what tests I should get done to have it properly diagnosed. Other than Hemoglobin Electrophoresis, what are other tests that must be done...I just want to make sure they do it properly the next time around.

Is there anyone else here with a child of similar age and similar Hb levels who is doing okay without transfusions??? I can't help but wonder if they would be transfusing him had I been in another country.

How is your son doing? Found an hospital?

Hi Andy
I have a question.  We have just gone through the Hb electrophoresis of our daughter and the results are as follows
Hb F           8.9%
Hb A          88.6%
Hb A2         2.5%
 

After seeing results Dr became confused as he is saying that your child must be thal intermedia not major and he  gave the sample for genetic test. As my daughter was diagnosed Thal major on14th august 2010 and results was as follows
Hb F           96.5%
Hb A2         3.5%
Hb A was not done on that time.
please clear this situation..................

sorry Hb A was 0% on that time...

The current electrophoresis shows a close to normal HbA, which is the result of transfusions, and does not indicate intermedia. However, the HbF of almost 9% does indicate that attempts to raise fetal hemoglobin levels have the potential to help. The HbF is what is being produced by your daughter's body, while the HbA is from the transfused blood. Hydroxyurea may have a positive effect.