http://www.cnr.it/ontology/cnr/individuo/prodotto/ID230702

Identification and molecular characterization of a novel 55 kb deletion recurrent in Southern Italy: the Italian Ggamma(Agamma delta beta)°-thalassemia. (Articolo in rivista)

Type

Articolo in rivista (Classe)
Prodotto della ricerca (Classe)

Label

Identification and molecular characterization of a novel 55 kb deletion recurrent in Southern Italy: the Italian Ggamma(Agamma delta beta)°-thalassemia. (Articolo in rivista) (literal)

Anno

2013-01-01T00:00:00+01:00 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi

10.1111/ejh.12066 (literal)

Alternative label

Lacerra, Giuseppina; Prezioso, Romeo; Musollino, Gennaro; Mastrullo, Lucia; Piluso, Giulio; De Angioletti, Maria (2013)
Identification and molecular characterization of a novel 55 kb deletion recurrent in Southern Italy: the Italian Ggamma(Agamma delta beta)°-thalassemia.
in European journal of haematology; John Wiley & Sons Ltd., Chichester (Regno Unito)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Lacerra, Giuseppina; Prezioso, Romeo; Musollino, Gennaro; Mastrullo, Lucia; Piluso, Giulio; De Angioletti, Maria (literal)

Pagina inizio

214 (literal)

Pagina fine

219 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url

http://onlinelibrary.wiley.com/doi/10.1111/ejh.12066/full (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume

90 (literal)

Rivista

European journal of haematology (Rivista)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali

6 (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo

3 (literal)

Note

PubMe (literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni

Istituto di Genetica e Biofisica \"Adriano Buzzati-Traverso\", Consiglio Nazionale delle Ricerche, Napoli, Italy; ASL NA1, P.O. San Giovanni Bosco, U.O.C. Ematologia, Napoli, Italy; ASL NA1, P.O. San Gennaro, U.O.C. Ematologia, Napoli, Italy; Dipartimento di Patologia Generale, Seconda Università di Napoli, Napoli, Italy; ICCOM Consiglio Nazionale delle Ricerche, Sesto Fiorentino, Firenze, Italy; Core Research Laboratory - Istituto Toscano Tumori, Firenze, Italy (literal)

Titolo

Identification and molecular characterization of a novel 55 kb deletion recurrent in Southern Italy: the Italian Ggamma(Agamma delta beta)°-thalassemia. (literal)

Abstract

Objectives: To characterize the molecular basis of a beta-thalassemia defect in subjects with mild microcytosis associated with normal Hb A2 and increased levels of Hb F. Methods: Six subjects from 3 apparently unrelated families from Campania (Southern Italy) have been investigated by using DNA restriction analysis, Inverse PCR, cloning, sequencing, Multiplex ligation-dependent probe amplification (MLPA), quantitative Real Time PCR, gap-PCR. Results. We have identified a novel 55 kb beta-globin gene cluster deletion in three unrelated families: the Italian Ggamma(Agamma delta beta)°-thalassemia. This deletion removes most of beta-globin cluster. The 5' breakpoint was within the Agamma-globin exon 2 and the 3' breakpoint was within a 160 bp palindrome: the breakpoint-flanking regions present a micro-homology (5'-TGGG-3') that, together with the palindromic structure, may have contributed to the recombination. Conclusions. Large deletions of beta-globin gene cluster are usually found in single families. Here we report about the novel Italian Ggamma(Agamma delta beta)°-thalassemia we have found in three families. Twenty years ago the characterization of the first family was challenging, whereas that of the other families has taken advantage of nowadays techniques. The relatively high frequency of this novel deletion in Southern Italy suggests that it should be tested, together with the Sicilian (delta beta)°-thalassemia, in Italian and Mediterranean families with microcytosis, normal Hb A2 and increased Hb F levels. (literal)

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