So confused:(

My husband and I are both thal minor. We recently had a baby who will be 3 month in 2 weeks. We got blood work done on our baby and the result came back likely thal trait!! Is it too early to know if he has thal major?? I'm so confused because some here knew at birth if their baby was minor or major. All the infor would be great.

Momofyaqub,

We found out our son was thal major at 3 months - he was born very healthy and his hemoglobin was good until 3 months of age because babies make fetal hemoglobin until that age - it is when adult hemoglobin is requred that one notices the anemia. 

That being said, if an electorphoresis or genetic testing indicate that your child is thal minor then very likely your child is not a major. 

A thal minor/trait will never turn to thal major.

Just asking which blood test you had conducted. An electrophesis test will determine the true state of thal.

Most hospitals do a hemoglobin electrophoresis at birth. Majors have no adult hemoglobin at birth, while minors do. I am curious how minor could be diagnosed so young. Was this test done at birth or later?

Andy, this test was done about 2weeks ago a little over 2 months old. The doctor told me he still has about 50% fetal and 50% adult hemoglobin . To retest when he is 6 months.

Momofyaqub,
Congratulations on the arrival of your new baby. Since he has 50% adult hemoglobin, he is definitely not a Thal major. Electrophoresis and genetic testing of mom, dad and child will help you understand what kind of mutation the baby has and that will help to determine what kind of treatment (if any) will be needed. In either case, your baby will be fine. The treatment for Thalassemia has come a long way. So, do not worry.

Sharmin.. How did you find out he was thal major? Did he have symptoms?

Momofyaqub,

My husband and I knew that we were thal carriers.  At 3 months our son looked quite pale - but did not display any other symptoms of thalassemia.  During a routine visit I mentioned his skin color to the pediatrician so he decided to do a blood test - his hemoglobin was 4.4 that day - and a protein electrophoresis confirmed the diagnosis of thalassemia major at that time. 

Even if you and your husband are both thal minor- the chances of your child having thal minor are 50%, of being a major are 25% and not having thal at all are also 25%.  Your child's results suggest that your child is a thal minor. 

We also have a daughter who does not carry thalassemia at all. 

As mentioned by Bostonian, the baby cannot be major (or intermedia). A good multivitamin without iron is in order.

How can he not be a major? Why did my doctor say likely a minor and not just say he is a minor? Sorry for all the questions.

Majors have little to no adult hemoglobin, HbA. Intermedias have low amounts, also. Minors test the same as non-thals at birth, and that is a combination of HbA and HbF, along with HbA2. The percentage of HbA2 is higher than normal in minors. That, along with CBC results, particularly low MCV and MCH, with high RBC are used to diagnose minors when they are still infants.

Andy can I send you a copy of his blood work to get your opinion?

Yes, please do, but keep in mind that you cannot get a true hemoglobin electrophoresis on a beta thal minor until after 6 months.

Hemoglobin                  79.                   100-140
Hematocrit.                 0.232.           0.30-0.42
Rbc.                                3.10.                3.50-5.00
Mcv.                                74.8.              80-84
Mch.                                25.5.             24.0-31.0
Mchc                              341.               320-365
Rdw.                               23.7.             11.5-14.5
Platelet count.            465.              150-450


HB Electrophoresis

HB A1.          0.517.                     0.960-0.990
HB A2.       0.025.                    0.000-0.040
HB F.           0.458.                    0.000

High HB F consistent with newborn and no variant HB Detected
Sent from my iPad