Document Detail


Identification and molecular characterization of a novel 55 kb deletion recurrent in Southern Italy: the Italian (G) γ((A) γδβ)°-thalassemia.
MedLine Citation:
PMID:  23281611     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
OBJECTIVES: To characterize the molecular basis of a β-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 β-globin gene cluster deletion in three unrelated families: the Italian (G) γ((A) γδβ)°-thalassemia. This deletion removes most of β-globin cluster. The 5' breakpoint was within the (A) γ-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 β-globin gene cluster are usually found in single families. Here we report about the novel Italian (G) γ((A) γδβ)°-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 (δβ)°-thalassemia, in Italian and Mediterranean families with microcytosis, normal Hb A2 and increased Hb F levels. © 2013 John Wiley & Sons A/S.
Authors:
Giuseppina Lacerra; Romeo Prezioso; Gennaro Musollino; Giulio Piluso; Lucia Mastrullo; Maria De Angioletti
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-1-2
Journal Detail:
Title:  European journal of haematology     Volume:  -     ISSN:  1600-0609     ISO Abbreviation:  Eur. J. Haematol.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-1-3     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8703985     Medline TA:  Eur J Haematol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2013 John Wiley & Sons A/S.
Affiliation:
Istituto di Genetica e Biofisica "Adriano Buzzati-Traverso", Consiglio Nazionale delle Ricerche, Napoli, Italy.
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