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Keywords:

  • α-thalassemia;
  • Hb Sun Prairie;
  • Hb Caserta;
  • co-inheritance of globin gene mutations;
  • HbH

Summary

This study describes a new molecular condition in the α2-globin gene (HBA2) found in six unrelated families from Southern Italy (Campania and Sicily). This new double mutant form of haemoglobin is called Hb Southern Italy and originated from the coexistence of two known mutations occurring in the same globin gene, HBA2 26 G[RIGHTWARDS ARROW]A (Hb Caserta) and HBA2 130 G[RIGHTWARDS ARROW]C (Hb Sun Prairie). Hb Sun Prairie was originally observed in Indian patients in either the homozygous state, with severe hemolytic anemia, and in the heterozygous state with microcytosis, or in asymptomatic cases as an α-thalassemia carrier phenotype. Hb Caserta was observed for the first time in a Casertian family (South Italy) that displayed a slowmigrating haemoglobin upon investigation. We report the clinical phenotype and molecular study of this new double mutant form of haemoglobin in heterozygous and homozygous subjects, as well as in association with α° delectional thalassemia.