A novel mutation of -73(A-->T) in the CCAAT box of the beta-globin gene identified in a patient with the mild beta-thalassemia intermedia.

Abstract excerpt

The beta-thalassemia is one of the most common autosomal recessive disorders in Southern China. The point mutation of beta-globin gene is the commonest molecular pathogenic mechanism. In Chinese population, over 30 mutations have now been identified. In this paper, we describe a novel beta(++)-thalassemia mutation of -73(A-->T) within the conserved CCAAT box at position -76 to -72 from the cap site of the...

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