Neapolis (CD 126 {beta}+ GTG->GGG): a result of a screening in Campania, a region in Southern Italy

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: intern...

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Bibliographic Details
Published in:Haematologica (Roma) 2007-07, Vol.92 (7), p.990-991
Main Authors: Pagano, Leonilde, Viola, Assunta, Fioretti, Gennaro, Ammirabile, Massimiliano, Ricchi, Paolo, Prossomariti, Luciano
Format: Article
Language:English
Subjects:
Genotype
Hemoglobins, Abnormal - genetics
Humans
Italy
Mass Screening
Point Mutation
Thalassemia - diagnosis
Thalassemia - genetics
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Summary: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 HbA 2 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.
ISSN:0390-6078
1592-8721
DOI:10.3324/haematol.10970