First Report of β-Thalassemia Intermedia in a Patient Compound Heterozygous for –92 (C>T) and Codons 36/37 (–T) Mutations

Abstract

The –92 (C>T) (HBB: c.-142C>T) is a silent β-thalassemia (β-thal) mutation previously described in combination with several β0 mutations and expressed as β-thal intermedia (β-TI). Heterozygous individuals are known to be completely asymptomatic showing borderline hemoglobin (Hb), mean corpuscular volume (MCV) and Hb A2 levels. Here, we report the first incidence of –92 in Eastern Europe and in Azerbaijan, and the first case in combination with codons 36/37 (–T) (HBB: c.112delT) mutation.