SHORT COMMUNICATION Severe a-Thalassemia Intermedia Due to a Compound Heterozygosity for the Highly Unstable Hb Adana (HBA2: c.179G4A) and a Novel Codon 24 (HBA2: c.75T4A) Mutation

We report a novel mutation at codon 24 of the a2-globin gene (HBA2: c.75T4A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe a-thalassemia intermedia (a-TI), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA2: c.179G4A) at codon 59 of the a2-globin gene. The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value. Keywords a-globin gene, a-Thalassemia (a-thal), nonsense mutation, point mutation, prenatal diagnosi