new and need help

We have known that my son had thalassemia. He was tested at birth and again at 3 months. The test came back Alpha. About a year ago his dr. noticed that he was not growing.....at all. He has been the height for almost two years now. We started at the endocrinologist. They told us he had the bones of a three year old, He is 5. So they sent us to do a little more testing on his blood. I have been told from day one that there was nothing that needed to be done for his thalassemia by his dr. Well we find out today that he has beta thalassemia. She said "he must have a little of both alpha and beta." IS THAT EVEN possible? I am now more confused than ever. 

Hi,

It is possible to carry both alpha and beta thalassemia because they involve seperate genes, however they normally moderate the effect of each other, resulting in a less severe condition. If you have had a hemoglobin electrophoresis test done I may be able to tell you more if you have the results. If he is not already taking it, he should be on daily folic acid supplements.

I would suggest you find a hematologist who has worked with thalassemics so you can find out exactly what he does have and also if anything can be done to help his growth. If you need help finding a hematologist, contact Eileen Scott at

Cooley's Anemia Foundation
330 Seventh Avenue, #900
New York, NY 10001
(800)522-7222
Fax: 212-279-5999

Patient Services Manager
Eileen Scott
eileen.s@cooleysanemia.org

thank you.....



I do have his test. not sure what you would really need.

Results for Hb, HbA2, HbF, MCV, MCH would all help.

this is what I have
HGB      8.4
HGBA   92.6
HGBA2 5.1
HGBF   2.3
MCV    59.7
MCH    18.5
I hope this is what you need. I look at it and go huhhhhh!!!!!!
Any help would be great
Thank you again...

The Hb is lower than expected for thal minor, but the other readings are consistent with beta thal minor. I really think a consultation with a thal familiar hematologist is essential. Please do start folic acid of 1 mg daily if he is not already taking it. It will help build and protect red blood cells. Wheatgrass extract may also be of some value in raising his Hb. Alpha thal trait can only be confirmed with a special DNA test so I am curious what test they used to determine this at birth.

the dr. did tell me it was intermedia. but they also think he may have a growth issue as well. Do tham. patients usually have growth problems? Thank you so much for your help. I will for sure look for someone here in Dallas to go see.

Intermedia would explain some things. As I mentioned, the alpha thal actually moderates the beta thal, resulting in a less severe condition. With less alpha hemoglobin, it helps to balance with the lowered amount of beta globins, so the beta thal does not manifest as severely as it would if all alpha genes were producing alpha globin.

Contact Eileen for a reference in the Dallas area. If she can't help, let me know as I do know a thal in that area.