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

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.