2 Different Test Results - Help : (

I am new to this forum.  I've some problem with my bood test results.  I did my first blood test on year 2000 at Malaysia.  Here is the result I get.

Normal HbA fraction
Increased HbA2 fraction: 5.0% (2.1 - 3.1)
HbH Inclusions: Negative
Noabnormal Haemoglobin detected
Comment: Finding are consistent with alpha thalassemia trait

Years later, I moved to Los Angeles, get married and my wife get pregnant.  She has thalassemia minor (Alpha).  I undersatand there is 25% change that the baby will get alpha thal majhor.  But, the thing is, most of my family members are beta thalassemia minor.  I doubt the reliabilty of the blood test and I went to Kaiser Permanente for my second bloodtest.

Here is the result:

WBC'S AUTO - 5.3
RBC, AUTO - 6.4
HGB - 12.4
HCT, AUTO - 38.9
MCV - 60.8
MCH - 19.3
MCHC - 31.8
RDW, BLOOD - 16.8
PLATELETS, AUTOMATED COUNT - 287
MPV - 8.5
HGB A2 - 5.6
HGB F - 0.8

Based on the result, Doctor said I am a Beta Thalassemia carrier.  Now I get confuse and I met with a genetic counselor yesterday and he told me the same thing, I am a Beta not Alpha.  Since my wife is alpha and I am beta, we do not need a CVS test.  But, how can this happen? How can I get 2 different results from 2 different tests.  Is that possible that I can have both traits? Please help !!!

Hi,

to the site!

An increased HbA2 means you have increased Alpha ratio. This means your Alpha genes are fine but your beta genes are not producing sufficient beta chains to balance the equations.

So in my opinion, it's quite probable that you are Beta trait and not Alpha.

Better get the final word from our resident expert; Mr. Andy

Please feel free to ask more questions that you have in mind

Sajid has it correct. The increased HbA2 is a sign of thal minor. I would say you definitely are beta minor. Alpha thal trait is very hard to diagnose through hemoglobin electrophoresis and there is nothing in the results you provided that would indicate alpha thal. However, there must be some reason you were told that and alpha thalassemia is widespread in Eastern Asia, so before having children you should find out for sure. DNA analysis may be the only method to accurately determine if you do carry alpha thal genes.

I am not a lab technician who can read the values and say - This is what the results are indicative of, but reading the values below and doing a bit of research, it seems like you have Beta Thal(Trait). But, I would say, you cannot rule out alpha thal(trait) - just because you are beta thal(trait). You can also be a silent carrier of alpha (meaning it does not affect your lab test at all). For reference, see this site for info on Alpha Thalassemia Silent:- http://www.cariboo.bc.ca/schs/medtech/RICE/thalassemia.html#aminor

Only one of the four genes is abnormal. As a result there is a near normal production of alpha chains with very few if any clinical or laboratory changes

Also, may be it is a good idea to get your wife's complete testing done to know for sure if she has Alpha Zero Thalassemia Trait or Alpha Plus Thalassemia Trait. The combinations of both of you might need genetic counselling and they might be able to give you both a clearer picture of how to plan going forward.

As Andy mentioned, DNA analysis is the only way you can accurately find out the alpha gene mutations. If you have to force through the issue with the doctor's for further testing. Take the printout's of the following site and show them so they can think about it being a step in the right direction
http://www.thalassemia.com/gene_test.html

DNA testing that directly examines the alpha and/or beta globin genes is necessary. DNA testing is the only way to determine silent alpha thalassemia trait and the related hemoglobin trait called hemoglobin Constant Spring. DNA testing may also be necessary in order to allow for the option of prenatal testing.

Keep us updated and we hope for the best results for you. You are in LA and the best place for getting information on thalassemia as there are a lot of doctor's who know about thal in that area.

THANKS...... A LOT...