Need help in the reports

Hi Friends

I am new to the site. I need your help to understand the 'HAEMOGLOBIN HPLC/ ELECTROPHORESIS' report of my daughter. I have also attached the report (check page 2).


'My History :-  Both me and my wife doesn't have Beta thal minor/ trait. But my partents  (both MOM and DAD) are beta thal minor and my sister is bet thal major. She is under the transfusion from 4 years age.'

Our doctor told us that there is no chance of thal genes coming in your daughter. But I did the test for my satisfaction.
Now her test reports are bit confusing and doctor told us to do the same test after 1.5 years. I don't know why. My daughter is 3.2 years old and by this time report should be clear.

Doctor told me that her other results are nomal but hb f is 9.1 which shows sign of beta thal minor. I am very worried and can't sleep easy for last 2 nights. Can some one please help me with the reports and why did doctor told us to wait for 1.5 years more.

My daughter is very active and never shows any sign of being anamiea. Pleas tell me is there any life threatening issue for her in near future.

Waiting for your reply (Andy and other friends)

Regards
Harpreet Singh

Thalassemia minor is almost no symptoms. Mild symptoms, such as susceptible to colds (weak immune system), stamina rather weak, easily tired when doing strenuous activities. The most severe symptoms only anemia, it conditional hb or hematocrit should be dropped. To find your child with thalassemia minor or not, we wait for the answer from Andy.

Thanks Berlian. Yes I am too waiting for reply from Andy

You're welcome harpreetLove :-)

Harpeet,

The child is likely one of two things mentioned in the report. Her HbF is far higher than what is seen in typical beta thal minor, so that alone is unlikely. The most likely possibilities are Delta/beta thalassemia and Hereditary persistence of fetal Hb (HPFH). In either case, these are inherited conditions, so one of the parents would also have to be a carrier. Delta/beta thalassemia is often missed when looking at a complete blood count, so if this is the case, one of the parents is also an undiagnosed carrier.

Neither situation is alarming. Neither requires medical attention. I would suggest further DNA testing to determine the exact status, as this is important to her later in life when she decides to have children. She will need this information so that a partner can be tested if necessary.

Thank you very much Andy. That will give me lot of relief. Can you
Please tell why doctor told us to wait for 1 year to do another test.

And can DNA test be done now. Her age is 3.2 years.

I would assume the doctor wants to wait and do another electrophoresis to check and see if the HbF remains so high. Do you have the rest of the report? I would like to know the percentage of HbA2.

Thanks for the reply Andy. Complete report is attached in the first post.
Her hb A2 value is 1.7 which is under range.

The low (normal) HbA2 would not be the case in most types of thal minor, but would be the case if she carries Delta/beta thalassemia. This would also explain why neither parent has been diagnosed as a carrier. Electrophoresis of both parents may help give more clues to her true status.

Thanks Andy. Her Hb is 12.3 which is good. So she will have normal
Life ahead?. She seems to be carrier? Please share your views

Neither HPFH or Delta/beta thalassemia pose any threat to her health. The main concern is proper diagnosis, so that she can make informed decisions later in life about having children of her own.

One question.

How come you are not a trait/career of thal minor when you both parents are?

Is such a thing possible?

-P.

If the child is either a thal minor or carries HPFH then one of the parents is also a carrier. However, Delta/beta thalassemia is not so easily diagnosed because the HbA2 level will not be high as it typically is with beta minor. Whichever it is that the child carries is not easily diagnosed so it has been previously missed in the parent who is a carrier. By the way, this should give comfort to the parents because the lack of symptoms in the carrier parent will probably also be seen in the child.