So confused:(

A beta thal major would have little to no HbA and an intermedia would have a much lower value. For the age of the baby, these numbers are typical of thal minor. After 6 months you will see the HbA % rise and the HbF level drop down below 5. I would hope to see the Hb rise as the child gets older.

HB A1.          0.517.             

Great! Thank you for yor reply... I'm praying he is a minor.

Thanks again for all your input!!!!

Andy, I went to Sick Kids in Toronto for a second opinion and the doctor really scared me.  He pretty told me that he could be inter or major or minor and the test from 2 months old he can't comment on. Like mentioned above he's producing hba isn't that a good sign? Also he's hemoglobin is at 79 refer range is 100-140!is that normal in thal minors??

Thal majors will have little to no HbA. No major will have 50% HbA. Intermedia becomes more difficult to diagnose because there is a wide range of phenotypes in intermedia, and some can have an HbA % of around 50%. More severe intermedia patients will have a much lower level of HbA. Because of the age, electrophoresis is still not going to be able to determine the true nature of the condition, so you either have to wait until after 6 months and sometimes later, or have a DNA analysis done to see if the child carries two beta thal genes.

Hi all,

I am new to this but I am so glad that this forum exists and everyone contributes to build this excellent knowledge base and warm community.

I am a new dad to my almost 4 months old son. I have a alpha thal constant spring and my wife is a CIS carrier. We are both Chinese. Even before my son is born, ultra sound measurement indicated that he MAY be anemic. But it was border line that we did not do a fetal transfusion.

He was born healthy, not even jaundice. We were told that it is too early to do a alpha thal test yet. However, all blood test results indicate that he inherited both bad genes from me and my wife (the unlucky 25%). This includes low hemoglobin level and small blood cells and.... His hemoglobin level (sorry that I don't know the exact name) was around 12 at birth, down to 9 at seven weeks and even down to 8 at ten weeks.

So far we have not done any treatments. We are going to see the specialist next week to do another blood test. I am very nervous what is the next step?

My dad is a alpha thal major (2 deletions and 1 mutation). He is going to be 60 next year. He lived half of his life not knowing he has alpha thal and he had never had a transfusion in his life. I was hoping my son can be like that too.

Best wish to everyone.

Hi and welcome,

First, DNA testing can take place at any age and it is the only method that can tell exactly which alpha traits your child carries. A birth electrophoresis would have revealed hemoglobin barts, if it had been done, but this needs to be done at birth. A DNA analysis looking for the traits that each parents carries is the only way to learn what type of alpha thal your son is.

And to add to your understanding of alpha thal, alpha majors cannot survive unless transfusions are done while still in the womb. An alpha major has 4 genes deleted and cannot produce any HbA, or HbF. This is not compatible with life. A 3 gene alpha is considered to have either HbH disease or constant spring but they are not labeled major. Many with constant spring will require transfusions, but their phenotype is closer to that of a beta thal intermedia patient.

Sorry. I mixed up the terms. What I mean was both my dad and my son has 2 deletion and 1 mutation.

Thanks for the explanation.

Eric

Just did another test today on my baby. His Hemoglobin level was 7.1 at ten weeks old and 7.4 at sixteen weeks old.

Eric,

The hemoglobin level does suggest what you suspect, that the child may have Constant Spring. I would not expect the Hb to drop any lower than the current range. I do not understand why an electrophoresis is not done, as Hb Barts would show from birth. This is unlike beta thal, where an electrophoresis will not be of value until after 6 months. If it does prove to be Constant Spring, transfusions may sometimes be needed. The one thing you should be doing already is giving the child liquid folic acid daily, as it does help build red blood cells. A good nutritious diet should be taught as the child grows. Junk foods should be avoided. Fava beans (broad beans) should not be eaten, as they can trigger a hemolytic crisis and a sudden drop on Hb level. There are also drugs and chemical fumes that should be avoided as they can also cause hemolytic crises. You can see a list of things to avoid at http://www.thalassemiapatientsandfriends.com/index.php/topic,3410.0.html

Thank you for your advice.

I think I am not familiar with electrophoresis but there were some blood test done at birth and detected Hb Barts.

I am aware of avoiding Fava beans and mint as my wife's family carries G6PD genes as well.

I will start using supplement.

Hi Andy,

We got the results back for my son's blood work from sick kids and his Hba has gone up to 79.1!!!!!  The nurse said she believes he is a thal minor!! Also his hemoglobin went up to 94.  I wanted to thank you for taking the time to answer my questions! It's nice to see that someone like yourself helps others out! So happy I found this wonderful forum:)