Hi :)

I just wanted to say hello. I was told my daughter has alpha thalassemia, based on her newborn screening. I was told it was nothing to be concerned with, and so far it hasn't been but I'd feel much better if I could learn all I can about it. Most of the time when I take her into the Dr. for an appointment (we never seem to have the same doctor) and when asked if she has any health conditions I of course tell them about the alpha and 9 out of 10 times they have no clue what it is, which never leaves me very confident as to them treating her for anything at all. Basically I'd like to know from other people who actually have it or live with someone who has it what they would recommend as far as her healthcare, genetic testing, if she'll really never have any concerns due to it etc., should she be having any routine blood work or anything of that nature.

She is now 8 years old. When we lived up North her doctors always did blood work whenever she came in for an appointment even if it was just a cold. Since we've moved South she really hasn't had anything done at all as far lab testing or anything.


Any and all info. would be greatly appreciated.

Hello Carolinamom,

Does your daughter have alpha thal(trait) or Hemoglobin H?
Alpha thalassemia may result in total of 3, 2,1 gene. So you might want to find out more about it

Also, it would be good idea to get your husband tested for thal as if too is an alpha thal carrier and you guys plan for another child.

I think Duke has a good center for thalassemia and the doctor's might be able to give more insight on it.

Narendra

It's not Hemoglobin H, I don't know if she's just a silent carrier or what, that's really what I'd like to know but I can never get a direct answer from the physician's I ask. I had even went so far as to call the newborn screening lab to see if they could maybe give me an idea based on their screening but they said they couldn't. All I ever get is the standard answer of it's nothing to be concerned about.  I'm thankful it's not any worse than it is, but I would still feel more comfortable if I had a clear picture and knew exactly to which extent she has it.

Thanks for the information about Duke

Alpha thalassemia trait is very difficult to diagnose because usually little if anything unusual shows up in complete blood counts or electrophoresis. Alpha thalassemia involves four alpha hemoglobin genes and in silent carrier (one gene deleted) and alpha thal minor (two genes deleted) there are usually no symptoms. With minor, there can be some mild anemia but that's about all and if so, the only real treatment is taking folic acid. It will in no way interfere with having a normal life.

I know it is frustrating to not be able to get more information, but without DNA testing, there is really nothing they can tell you.

http://www.thalassemia.org/sections.php?sec=1&tab=8

The trait for alpha thalassemia (or Silent Carrier) is much more difficult to identify and can only be determined by a special DNA test called alpha globin DNA mutation analysis. This test is available at only a few major medical centers in the US. If you suspect that you may have the alpha thalassemia trait and cannot visit one of those centers, your doctor can send your blood sample to one of the special laboratories for DNA testing.

The most important consideration is that your daughter is aware that she is a carrier, as this will be important if she decides to have children as an adult. It would be important to rule out that the father is an alpha thal carrier before choosing to conceive. This is the main reason you have been told about the alpha thal. Even though alpha thal is the most commonly occurring hemoglobinopathy on earth, it is also typical that carriers have no idea at all that they carry it because if it involves only 1 or 2 genes, there is usually no effect on health.

Thank you for the info. Andy

Carolinamom,

I can understand the frustration due to NOT getting clear idea from the doctor's. What does the pediatrician say? ask the pediatrician to give a referral to Duke and see a hematologist who knows about thalassemia. You might also want to find out whom did she get the carrier gene from (you or your husband). This is more so for precaution so that awareness might be spread to the family, so that in case there are 2 thal minor's who get married, they might want to be aware before they plan for a child

As Andy mentioned Alpha Thal is difficult to diagonise from blood test alone.