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Adventia alpha thalassemia – genetic disease carrier screening

Alpha-thalassemia It is caused by mutations of globin-synthesizing alpha genes HB1, HB2 - most often by gene deletion.

 

Mutations of the mentioned gene are inherited in an autosomal recessive way, which means that mutated genes from both parents are required for the development of the disease.

 

Learn more about thalassemia:

 

 

It's Advent The α Thalassemia – Focus panel examines the HBA gene cluster and its HS-40 regulatory region to detect small deletions and duplications.

 

It's Advent α Thalassemia – The focus panel determines whether a phenotypically healthy person is a carrier of the mutated gene for the disease.

 
 
 
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