alpha gene triplication

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alpha gene triplication
« on: March 06, 2013, 01:19:55 AM »
I recently received the below lab results after having 3 miscarriages.  It sounds like nothing to be concerned about but I don't really know.  Can someone clarify what an alpha gene triplication means and if you would advise follow up testing? 

 AlphaThalassemia
NEGATIVE
No deletion mutation detected. This analysis detects the most co
mmon deletions and the Constant Spring mutation, it does not ass
ess all known alpha-thalassemia mutations. This result reduces,
but does not eliminate, the chance that this individual is a car
rier of alpha-thalassemia.This patient's sample showed the prese
nce of an alpha gene triplication. This change is considered ben
ign with respect to alpha-thalassemia risk, however, co-inherita
nce of this variant with beta-thalassemia may worsen the clinica
l and hematological features of this latter condition. There is
also a possibility for hematological changes or clinical symptom
s in beta-thalassemia carriers when this alpha-globin gene varia
nt is present.

*

Offline Andy Battaglia

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Re: alpha gene triplication
« Reply #1 on: March 06, 2013, 02:32:53 AM »
Normally, there are 4 alpha globin genes in clusters of two. When there is an alpha triplication, one of these clusters actually has an extra gene, and the amount of alpha globin produced increases. When one also carried beta thalassemia, a less than normal amount of beta globin is produced, so there is an imbalance between the two globins, that together form hemoglobin. This can create the symptoms of beta thalassemia intermedia. Your report shows only the triplicated gene. Supposedly, this causes no issues. However, since there is still an imbalance of globins produced, I would not be surprised if patients in the real world did sometimes experience some symptoms because of the excess alpha globin chains produced.

It may be wise to have a partner tested to make sure there is no thal carrier status in the partner, as this could create the potential of a child with moderate anemia.
Andy

All we are saying is give thals a chance.

 

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