The test is proposed to determine carrier status in relatives of affected individuals and in the partner of those who have been found to be carriers for family planning purposes.
What the test detects
The test looks for deletions in the HBA1 and HBA2 genes.
What variants cause
The deletions in the HBA1 and HBA2 genes make it possible to determine the carrier status of alpha thalassemia, which is an autosomal recessive transmission, i.e. when both parents are carriers there is a 25% chance of having an affected child.
How testing works
The test consists in performing a blood sample, in the extraction of genomic DNA and in the search for deletions in the HBA1 and HBA2 genes using MLPA technology.