Abstract
Alpha thalassaemia is an autosomal recessive disorder, commonly caused by a deletion in the alpha-globin gene cluster encoded by the HBA1 and HBA2 genes on chromosome 16p13.3. Individuals with one or more deleted (or dysfunctional) alpha globin gens exhibit a wide spectrum of haematological and clinical phenotypes. MLPA is a copy number assay that detects common deletions associated with 90% of alpha thalassaemia cases.
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