alpha trait with anemia and microcytosis ???

Hello everyone!
My 3 months daughter was recently diagnosed with hbh disease: 
-Hb barts in her nb screening test
-anemia (hb level= 8.9) and microcytosis (MCV= 55) in her CBC
-Her hb level went down to 6.6 due to an infection when she was only 1 month old.

We are not really convinced that has the hbh disease because my DNA test shows that I have only one 3.7 deletion and my husband has 2 (3.7) deletions in trans form (Husband also has anemia and microcytosis with Iron overload).
We performed DNA test for her, we are waiting for the results in few days..

Most of the Drs. are saying that she must have the hbh disease because alpha thalassemia trait does not cause anemia and is asymptomatic. They are also confirming that my husband has hbh disease as well and that his genetic test is wrong!!
However, reading some of the posts here, I noticed that even alpha trait (minor) experience symptoms and have anemia and they can also have H bodies inclusion in their HPLC !!!!

May Thalpals with ALPHA ThaL Trait let me know about their experience? Can you please enlighten me if alpha trait can have mild symptoms?

Thank you so much...………….

Hello Malak,
I think will be wise to wait for your baby's DNA test .
Does your husband have a copy of his electrophoresis?
 

Hello dear Danny,

We're expecting the DNA results this week....but the fact that we have many different Drs' opinions, although our DNA tests are clear, is giving me the doubt that we are going to get the clear answer through her DNA test
.. I'm afraid that if her test results came like her dad's (homozygous a3.7 deletion trans-), some drs will tell me the DNA test is wrong or that an additional deletion is there but concealed!! Has anyone been told the same out here??? any similar situation?

As for my husband's electrophoresis, it came as follows:
HBA0 88.5
HBa2  1.2
HBF   10.3
HBS 0
HBC 0

(Husband's DNA TEST showed homozygous a3.7 deletion- trans)


My electrophoresis is completely normal (MY DNA showed heterozygous a3.7 deletion)

So I came back to update you...

It turned out that my daughter is not just a carrier. She has the hbh disease with —med and -3.7 deletions.
And yes, my husband has the same deletions. His dirst DNA test was all wrong!!
I was hoping that the drs who said that he should repeat the DNA test are wrong...

Unfortunately, they were right and now I have to take care of my baby daughter and my husband too..

I started with folic acid for both of them..I’m also giving my husband some tea to help him with the iron overload...

Anything else would you recommend?   

Thank you....

malaktb, what percentage of hemoglobin Bart's was found in her electrophoresis?

It's unbelievable that they messed up an alpha deletion test. Some of these labs are a joke.

For HbH, I recommend these at the minimum. L-methylfolate, oral vitamin B-12 that melts under the tongue, vitamin D and zinc for the immune system. Establish a healthy diet early in life, so she grows up eating nutritious foods. Avoid processed foods as much as possible. Hydration is also very important.

Hi Andy,

Her nb screening test didn’t mention the percentage, just HBA+ barts.

Her electrophorisis at 2 months showed hbA 66.7% hbf 18% hba2 1.4% and hb x(unknown) 14.4%...

As you said, the lab where my husband did his electrophoresis and his DNA test is a joke!!

Thank you for the valuable info.. I started Zinc today.. her appetite is really low.. I’ve been told that Zinc might increase it.. hopefully

If the unknown hemoglobin is Hb Bart's and was >14% at two months, it is very close to the cutoff of >15% Bart's means HbH, and this number has likely dropped since birth. The most important things that will help the Hb level are taking L-methylfolate and vitamin B-12, which works best as tablets that melt under the tongue and are absorbed by the veins in the mouth. Iron should never be taken.

Hello Malaktb,
How have you guys been doing. I'm sorry for all the confusion and for the lack of information about your husband's first DNA test. I hope your daughter and your husband are doing well .
Your history got me thinking... So far after my diagnostic that happened on 2014,I have not been able to count on a doctor that really knows about thalassemia or have been dealing with it. I do live maybe 6 hours from Oakland Children's Hospital in CA, but I couldn't have a normal referral since I'm in other state... health in the US is expensive and complicated.
I wonder if I should start to question if my DNA was correct and if I should trust in a lab called Quest ...
Can I ask you if your husband ever need transfusions ?
I have been with very low hemoglobin count before ...and sometimes I wonder if those many symptoms would not mean that they maybe gave me a not correct test ... but this is just thought.
I will check with my siblings what their doctors say about  their  thalassemia .