β-Thalassemia intermedia in a lebanese child due to homozygosity for the -88 (C→T) Mutation

Abstract

We report a case of β-thalassemia intermedia involving a 3-year-old male child of Lebanese descent. Molecular studies of the family showed that he is homozygous for the -88 (C→T) β⁺-thalassemia mutation. This mutation is the second most common cause of β-thalassemia in Black populations, and has also been reported in Asian Indians. A review of Lebanese β-thalassemia cases revealed considerable mutation heterogeneity and excess homozygosity due to consanguinity.