Haematologica (Jul 2007)

Neapolis (CD 126 β+ GTG→GGG): a result of a screening in Campania, a region in Southern Italy

  • Leonilde Pagano,
  • Assunta Viola,
  • Gennaro Fioretti,
  • Massimiliano Ammirabile,
  • Paolo Ricchi,
  • Luciano Prossomariti

DOI
https://doi.org/10.3324/haematol.10970
Journal volume & issue
Vol. 92, no. 7

Abstract

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Between January 1995 and December 2005, we conducted a screening program for the presence of Hb Neapolis, a rare abnormal Hb variant, in Campania, a region in Southern Italy. Nineteen patients with Hb Neapolis in heterozygosis and six patients with a genetic compound (Hb Neapolis/β-thalassemia) were identified. Patients with Hb Neapolis in heterozygosis showed a slight alteration in HbA2 levels while compounds showed typical characteristics of thalassemia intermedia ranging from a non transfusion-dependent form for five patients to a transfusion-dependent form for one adult patient.