Help needed: Interpreting Thalassemia screen results

Hi,

I am a 28 yrs old male from Singapore. Recently, I took a Blood Count test because my wife is pregnant. Luckily she is fine, and I got the reason of why I am feeling tired frequently.

I need some help to explain my results.
My blood count test highlighted:
Total Red Cell count 6.4
Haemoglobin 13.4
MCV 65
MCH 21
The rest of the results are in the normal range.

I also took the Thalassemia screen confirming I am a Thalassemia Alpha minor.

Ferritin 166 ug/L

HbA2: 2.8
Haemoglobin F: 0%
HBH Inclusion Bodies: Detected

Comment: HbA present.
Hb-H inclusion bodies less than 1 percent.
Suggestive of Alpha-Thalassaemia Trait.

My wife Gyne told me that 3 of my gene out of the 4 Alpha is mutated.She also mentioned that I may not recovered from flu easily and will need to take folic for life.

Looking at the result provided, how did she know that 3 of my gene is mutated? If I show another doctor the result, will they understand my condition-3 gene mutated? Is this serious?

Help is much appreciated. THanks! 

Hi aeonia,

There is some confusion involved here which is understandable, as alpha thalassemia is not easy to diagnose. Alpha trait is actually two alpha genes affected. Silent carrier state would be one affected gene. If three of the genes were affected it would be called HbH disease and can have moderate to severe symptoms. Your hemoglobin level is quite normal, which isn't the case in HbH disease where it would normally fall below 10 and even lower. Your MCV and MCH do indicate that you may be alpha trait and folic acid is basically the only treatment. Take at least 1 mg daily.

DNA analysis is the only method that will accurately determine your genetic makeup and will show how many of your 4 alpha globin genes are affected. Even if your own health is only mildly affected, it is important for you to determine your own state so you can establish a family history that will be needed by your children and their children. Alpha thal carriers are very common in Asia, so knowing this information in advance can help prevent tragedy in your descendants. Also, for your own peace of mind you should have the DNA testing done. DNA testing will also confirm or rule out the presence of beta thal trait.

To read more about alpha thal, see our thread at http://www.thalassemiapatientsandfriends.com/index.php?topic=1772.msg14793#msg14793

Thanks Andy. But why would the gyne said that 3 of my gene is mutated, if the results does not show? How would she know that because I don't really think I am that serious.

BTW, what will happen if I have beta thal trait? Since I already know that I am a thal minor.


The Gyne also mentioned that the folic will prevent stroke, Thal are likely to have stroke?

FYI, I am already trying to persuade my sibling to take blood test.

Without DNA analysis, I have no idea why the doctor would say you have 3 genes affected. Your test results would indicate 2 genes affected. If you had HbH disease, this would be reflected in higher hemoglobin H levels. If you also have beta thal trait, it actually helps to moderate the alpha thal because there would be a more even amount of alpha and beta globins which combine to form hemoglobin. I think this would be the only way you could have 3 affected alpha genes and still have a normal Hb level, but even with that combination, it would be likely your Hb would be lower than it is.

Testing is so important because alpha thal is very difficult to determine and family history is greatly relied on for diagnosis. Your sibling should absolutely be tested, as should any potential thal carrier, not only for themselves but also for future generations as a matter of being a responsible person.

Thals do have a higher tendency for strokes because clotting problems can exist because of the nature of their blood cells. This isn't as common in minors but it is prudent to take both folic acid and vitamin E. E thins the blood slightly and lessens the chances for clotting. It also helps improve the health of red blood cells, which helps reduce the clotting issue.

Thanks for the insight Andy!

I also have a bad upper back ache for quite some time. Do you think this is due to thal?