Test for Thalassemia(Minor)

Hello Group,

I just got off the phone with my kids pediatrician. He has asked both my kids to take Iron Supplements. My daughter's Iron level is 13(Normal range is 50-175) and my son's Iron level is 29. To give you guys a history, I am a Thal(Minor) and my wife is normal(not a thal carrier).

I know my kid's have to either be normal or carry the Thal(Minor) gene. I got the Hemoglobin(Electrophoresis) test done for them here in USA, but seems the doctor really does NOT know if they are Thal(Minor). I asked him specifically if Thalassemia(Minor) is ruled out and he was NOT sure. He told me all values in their blood are normal except the Iron. I know if you are a Thal(Minor) - the Hemoglobin level is normal

Here, is my question. What value will tell us if the person has Thal(Minor)?? What is the test known in USA?

I have asked the doctor to send me the reports so I can get more knowledge about the actual values of Hemoglobin.

Thanks in advance
-Narendra

Narendra,
Did you happen to see Hb-F (Fetal) in results? Presence of Hb-F might indicate Thal trait. Hb-F is present in infants but it slowly disappears. However, adults with Beta Thal have Hb-F in their Haemoglobin composition.
Also, in case of Beta-Thal Hb A+ A2 is generally less than 97%.

Anyways, It's better to consult another Haemotologist.

I'm not positive but I thought they actually looked at the size of the red blood cells -- "mean corpuscular volume" or CPV.

Here's a link: http://www.labtestsonline.org/understanding/conditions/thalassemia-3.html

The concern for me is that the doctor has asked her to take Iron Supplement(Ferrous Sulphate). I am NOT quite sure if she should be taking it or NOT.

I know it is best to see a hematologist - I would prefer going to Hematologist who knows about Thalassemia and I know Children's Hospital in Boston has some good Hematologist. the kid's pediatrician's are ready to give referral so I think that is the best thing to do.

Thanks for replying with your views

-Narendra

Though unusual, it is possible to have an iron-deficiency in addition to the thalassemia trait. In fact, that is the case for me. I doubt though, that BOTH your children are thalassemia carriers AND iron defiicient. Glad you're going to see the hematologist.

Narendra,
Children's hospital of Boston has an excellent thal department. Please do verify iron deficiency before giving iron supplements. Iron deficiency anemia can coincide with thal minor but it must be diagnosed through serum ferritin tests before supplementing with iron. Also, iron supplements can be very harsh. It is preferrable to correct through diet and this I have first hand experience with. I could not tolerate iron and was able to reverse years of anemia with a high iron diet...it is possible and I am vegetarian and still managed to do it without meat. I'd be happy to give you some dietary tips if they do indeed turn out to be iron deficient.

Andy,

I have talked with the pediatrician and he has said it is OK for the kids to NOT take Iron for now until we get to know what really is the case.

My wife has started giving the High Iron food to the kids and hopefully that would get the level up a bit. We too are vegeterian so do send me the information for what diet would help us keep the Iron level up. But, do NOT worry about it now as you are on a trip and might be busy with other things for now.

-Narendra

Hi Narendra

If your kids have hemoglobin A2 more than 3.5 and low hemoglobin level and blood picture shows microcytic hypochromic cells , its confrim they can be beta thal minor. This hemoglobin A2 diagnostic criteria may slightly vary from lab to lab and diffrent techniques. But this is one of the diagnostic marker for beta thalssemia diagnosis. But if its alpha thal minor need to be investigated little bit more. Since you havent mention what type of thalssemia minor you have, If you are sure if your wife is normal there is no need to be worried you can have a child of thal major.

Hello mushto/All,

I did check the A2 and it was less than 3.5 for both my kids. I was thinking they do NOT have Thal(Minor) - when I went and met the doctor's at Children's Hospital Boston and they told me that due to the Iron reading below normal, the A2 is NOT an accurate measure to find out if someone is a Thal(Minor) or NOT.

We have been giving my daughter Iron for the last month or so, and hopefully her Iron level might be up.

We ended up giving blood sample for my daughter again and will see what the electrophoresis comes out to be.

Has anyone else heard, that due to low Iron level - there is NOT an accurate measure of A2

-Narendra

Hello,

I wanted to know how the iron deficiency and thal minor doctor/testing has turned out for your kids?

I have heard iron deficiency can interfere with thal testing accuracy...but, I find this all to be not very nailed done by even the so called thalassemia/hematologist experts.

I am iron deficient myself and am trying to find a "Good" Thal doc in Boston who sees adults.

-Night

Hi, my precious 13 year old daughter is being tested for Thal minor. She is adopted and we were told at birth to watch for symptoms of the anemia.  We have mentioned to Dr's over the years, but none of them have ever thought it was a problem. She's always been very healthy.  Recently she's started having her heart race when she's excited. She's also experiencing joint pain and misc. pain in different areas.  She's also pale and tends to tire easily.   However, she's also very active.  We've taken her to All Childrens Hosp. in Tampa for heart related problems (racing heart) and so far all tests are good. They took blood for Thal testing this last trip, after I once again mentioned the possibility of thal.  She's also normal in height..etc...
I'm worried about the joint pain. Is this normal? I'm so lost with all this!!

Hello Maggiebee,

The symptoms you describe could be caused by a lot of things - for example, growing pains!  It is great that you are aware that your daughter might be a thal minor, because now she can be tested and use the information throughout her life.  Many people wth thal minor don't have any health problems relating to being a carrier of thalassaemia, so don't be too alarmed.  The information is commonly used to avoid iron supplements prescribed to treat anaemia and in making reproductive choices.

Hopefully one of the other fantastic members here will be able to answer your query more specifically!

Cheerio!
Sally.

Hello Maggiebee,

You definately want to get your daughter tested for Thalassemia. It is always the best option.

And remember, Thal(Minor) is NOT a major problem. As Andy would say - It is a good idea to give her Folic Acid if she is a Thal(Minor).

As Sally mentioned, if we know she is Thal(Minor), that information can be helpful in avoiding Iron Supplements(which might NOT be helpful to her)

Thal(Minor)'s live a very normal life and most of Thal(Minor) - do NOT know they are Thal(Minor)'s until they either get themselves tested for Thalassemia or the hard way(their child is diagonised with the severe form - Thal(Major)) and the reality is thousands of parents learn it the hard way.

There are an estimated 80 to 90 million Beta Thalassemia(Carriers) and around 26 million Alpha Thalassemia(Carriers). There are a lot more who are NOT diagonised.

Hemoglobin Electrophoresis is helpful in diagonising Thalassemia. Also, it would be helpful to know if she if she at all is Thal(Minor) - if she is Alpha Thal(Minor) or Beta Thal(Minor).

Do ask questions and learn as much as you can.

-Narendra