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Jaundice and alpha gene triplication in beta-thalassemia: Association or causation?

Abstract There are few studies investigating alpha globin gene triplications in β-thalassemia in Asian Indians and its effect on phenotype, which was the primary aim of this study. Gap-PCR was performed in order to detect common alpha thalassemia determinants (−α3.7, −α4.2 and αααanti 3.7 triplication). Alpha-triplication was detected in 15.4% (10/65) of patients with thalassemia intermedia, 8.8% (4/45) of those with thalassemia minor and in 2.7% (2/74) of healthy controls. The severity of jaundice was higher in thalassemia intermedia cases with alpha-triplication and two of the alpha-triplication cases had a marked increase in serum bilirubin following intercurrent illness. Thus, alpha globin gene triplication is important genetic determinant underlying thalassemia intermedia in North Indians. Patients with α-triplication may develop prominent jaundice with marked increase in serum bilirubin following antecedent aggravating factors.