Haematologica
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Haematologica, Vol 92, Issue 7, 990-991 doi:10.3324/haematol.10970
Copyright © 2007 by Ferrata Storti Foundation
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Red Cell Disorders

Neapolis (CD 126 ß+ 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

UOC Centro delle Microcitemie "A. Mastrobuoni", AORN A. Cardarelli Napoli, Italy

Correspondence: Leonilde Pagano, UOS, Diagnosi delle Talassemie, UOC di Microcitemia, Azienda Ospedaliera di Rilievo Nazionale "A. Cardarelli", Via A. Cardarelli 9, 80145 Naples, Italy. Phone: international +39.081.7472242. Fax: international +39.081.7472248. E-mail: ildepagano{at}libero.it

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/ß-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.

Key words: Hb Neapolis ß 126 (H4) Val->Gly, ß-thalassemia, thalassemia intermedia.






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