My newborn diagnosed with Alpha Thalassemia.....help!

Hello, my name is Julie and I have a 2 week old baby. I just got a call from my pediatrician a few days ago saying that the newborn screen showed that my baby has an alpha thalassemia. She sent me the letter from the newborn screening center and it shows that her blood showed FA Barts, it also states that it is probably Alpha Thalassemia.

What confuses me is that she told me that it is probably the minor type since we are not asian and do not have asian ancestors. But is this deduction really reliable? They recommended that we have a cbc done when she is  6 months old to check for anemia. But I am wondering what the chances are that it could be Hemoglobin H and not thalassemia minor? Because we are not asian does that mean she definitely doesn't have Hemoglobin H disease? Is there any way to tell sooner rather than wait and see if she becomes anemic?

She is my fourth child and the only one I have ever encountered this issue with. I am not sure what to do. I do not want to wait to find out if she has the more severe form of alpha thalassemia, I want to be prepared! Any help or advice would be appreciated!

Thank you!

Hi Gorgemom,

Congratulations on your new child. Were you given any percentages for the various types of hemoglobin? Your child shows HbA (normal hemoglobin), HbF (fetal hemoglobin which is necessary in the womb but will diminish during the child's first few months of life) and hemoglobin Barts. If you have the percentages of each that were measured, I may be able to explain more.

Alpha thalassemia is common but not exclusive to Asians. It is also commonly found in those of African heritage and also among Mediterraneans.

If your child only has the trait, this is still important knowledge for the future and also means your other children should be tested, as even though it won't affect their health, it can create severe problems if a carrier has children with another carrier, so it is important to have this information for their future benefit and also their children should be informed if their parents are carriers. Testing for hemoglobinopathies is not done in every state in the US and not mandatory in many countries, so one can't assume anything without testing. Family history is very important in helping to prevent thalassemia major.

Thank you for your reply. The paperwork I received does not have percentages. It only says FA + Barts. Would the diagnoses be definitive if I had these results? I can contact the lab that did the testing and ask if they have this information. It was the state newborn screening program.

Is there a test we can ask for that will tell us for certain if it is trait or Hemoglobin H?

And why do they want to retest in 6 months? Are they waiting to see if she will become severely anemic by then? I am just not willing to wait and see with her health! I would like to know what is going on now so that we can be best prepared and be able to provide her with the best care possible.

How would they test my older children? Can you tell me specifically which tests would be run?

I know I am asking alot of questions, this is all very new to me and confusing.

Thanks again for the info!

Hi Julie,

The reason they retest at 6 months is that by then most of the fetal hemoglobin will have been replaced, hopefully by adult hemoglobin (HbA), and a truer hemoglobin level can be observed. The test that would give the percentages of the various hemoglobins is the hemoglobin electrophoresis test, which is how they were able to observe the Hb Barts already. This test should also be repeated at 6 months. Then a more definitive answer can possibly be found. The percentages at birth will give a pretty good idea about the alpha thal status. If the Barts is below 10% it is likely that the baby is no more than an alpha trait. If the Barts is above 25% there is a higher chance of hemoglobin H disease. The Barts may also be referred to as simply low or high. Since the doctor said most likely minor, the chances are the percentage is low. I say likely and possibly because alpha thalassemia is very difficult to test with the standard methods. A DNA analysis is sometimes used when the exact status cannot be determined by electrophoresis. If the child does show any anemia later on, the treatment is folic acid. Iron supplements won't correct this type of anemia and can cause damage when taken long term. Fava beans and benzene should be avoided when it is HbH disease, but unless transfusions are required as in severe cases of HbH, there isn't much known about treatment other than using folic acid and trying to maintain good overall health and strong immune system.

You can read more about the 4 different alpha thalassemia states at http://www.thalassemiapatientsandfriends.com/index.php?topic=1772.0

Thank you again for taking the time to answer my questions.
I have emailed the newborn screening program to find out how I can get the information regarding the percentages found. The doctor sent me the paperwork she received and all it says is FA + Barts, it does not specify an amount in any way.
She told me they were assuming it is the minor form since we are not asian. But I am not satisfied with  assuming, so I am hoping to get some information that will give me a better idea as to what is going on.
The weird thing is that we are not asian, but we also do not have any of the other ancestry mentioned, my ancestry is german, american indian, and french, my husband is dutch. So just the fact that this has come up at all is somewhat confusing.
Do you see alpha thalassemia often in those with no asian, african or mediterranean ancestry?
I am also wondering if my husband and I both have to have some form or be carriers of alpha thalassemia in order to pass it on to our child or is it possible just one of us have it?

There have been some sporadic alpha thalassemia mutations found in Northern Europeans which are not related to immigration from Asia. This has been found in Dutch people so that's one possibility.

Each person has 4 alpha globin genes, 2 from each parent. A parent who is an alpha thal minor can give one or two alpha thal genes to the child, so if only one parent is a carrier, the child will have no more than two alpha thal genes, and if the parent only carries one alpha gene, the child will have 0 or 1 alpha thal gene, and the other alpha globin genes will be normal. It takes only one gene to be silent carrier state. Two would be considered alpha minor and three would be HbH disease. Because of your backgrounds and the rareness of alpha thal carriers in your ancestries, it is highly likely that your child has received only one or two alpha thal genes from one parent only. This would still results in some hemoglobin Barts, but would not pose any danger to the child. The only real danger would come from having children with another carrier. Because alpha thal is so difficult to diagnose from blood tests alone, it is also very difficult to diagnose whether it is one gene silent carrier or two gene minor. A special DNA test is the only sure way to tell how many genes are affected. If neither of you have a history of anemia, this is most likely silent carrier state.

There is also a small possibility of lab error in reading the blood test.