Thalassemia Patients and Friends
Discussion Forums => Thalassemia Minor => Topic started by: qwertyqwerty on May 31, 2012, 05:47:12 PM
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Hi I was hoping for some advice with the following situation:
I have the Beta Thal Trait. My wife has just bloode tested for possible Alpha traits, she is awaiting a re-test to confirm.
We are trying for a family. I know with two Beta traits the chances are 75% on having a baby without the major trait. The question is how does this affect someone who has the beta and alpha minor traits?
Thanks
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In most cases, there is no problem when alpha and beta minor mix. In fact, because both cause a reduction on the respective globins produced, it creates a better balance of globins and the patient is generally better off because there aren't unmatched globin chains as there normally is with minors. However, there is an exception. When an alpha minor has a triplicate mutation instead of the more common deletions, too much alpha globin is produced and cause cause an intermedia like condition when mixed with a beta mutation. This is more rare, but if alpha trait is diagnosed, the triplicated alpha gene needs to be ruled out, so DNA testing may be required.
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Hi Andy thanks for the quick reply. That was the answer I was hoping for. Are there any symptoms for the triplicate mutation as my wife has never shown any. Also is it possible to have beta and alpha minor. I was diagnosed with beta back in 1993, just worried that as alpha is difficult to detect I could also have that? Thanks,
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There may be some health issues from the triplicated gene, but not necessarily so. Yes, alpha and beta can co-exist because they affect two different genes on different chromosomes. Alpha trait is not easy to diagnose, so DNA testing is usually required. I highly recommend having the tests done for both so you can be sure there is no possibility of thal major children.