The different types of alpha-thalassemia-2: genetic aspects

Abstract

The alpha-thal-2 haplotype is the most common cause of alpha-thal and is found in a great many of the world's populations. It is most commonly due to the deletion of a single alpha-globin structural gene, and the deletion of a single alpha locus using gene mapping methods provides objective diagnostic evidence for this haplotype. Seven varieties of nondeletion syndromes have also been described, but these seem to be responsible for a small minority of alpha-thal in all populations studied. Detailed structural analyses of the deletional types have revealed that they were caused by a wide variety of DNA recombinant events, the racial difference of which remain poorly understood.