Thalassaemia-like carriers not linked to the beta-globin gene cluster. (Articolo in rivista)

Type

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

Label

• Thalassaemia-like carriers not linked to the beta-globin gene cluster. (Articolo in rivista) (literal)

Anno

• 2006-01-01T00:00:00+01:00 (literal)

Alternative label

• Valeria Faà, Alessandra Meloni, Loredana Moi, Giuseppe Ibba, Maurizio Travi, Antonio Vitucci, Antonio Cao and Maria Cristina Rosatelli (2006)
  Thalassaemia-like carriers not linked to the beta-globin gene cluster.
  in British journal of haematology (Print)
  (literal)

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

• Valeria Faà, Alessandra Meloni, Loredana Moi, Giuseppe Ibba, Maurizio Travi, Antonio Vitucci, Antonio Cao and Maria Cristina Rosatelli (literal)

Rivista

• British journal of haematology (Rivista)

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

• accettato per la pubblicazione (literal)

Note

• PubMe (literal)

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

• Istituto di Neurogenetica e Neurofarmacologia, CNR, Cagliari, Italy. Dipartimento di Scienze Biomediche e Biotecnologie, Università degli Studi, Cagliari IRCCS Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, Milano Divisione di Ematologia II, Università di Bari (literal)

Titolo

• Thalassaemia-like carriers not linked to the beta-globin gene cluster. (literal)

Abstract

• This study describes the largest series reported to date, of individuals belonging to unrelated families carrying a beta-thalassaemia-like phenotype in whom the beta-globin gene was found to be structurally intact by sequence analysis. This genetic determinant appears haematologically heterogeneous, displaying either a silent beta-thalassaemia-like phenotype or a typical beta-thalassaemia carrier-like phenotype in different families. Compound heterozygosity for both beta-thalassaemia-like determinant and typical beta-thalassaemia allele resulted either in thalassaemia intermedia or thalassaemia major. By linkage analysis both the silent and the typical beta-like determinants were found not to be linked to the beta-globin cluster. Sequence analysis of the hypersensitive site cores of locus control region and of the genes coding for the transcription factors erythroid Kruppel-like factor and nuclear factor (erythroid-derived 2) were normal. beta-globin mRNA levels determined by real-time polymerase chain reaction were reduced in both types of beta-like carriers. These results indicate the existence of causative genetic determinants not yet molecularly defined, but most likely, resulting from either the reduction or loss of function of a gene coding for unknown transcriptional regulator(s) of the beta-globin gene. The knowledge of these rare beta-thalassaemia-like determinants have implications for clinical and, especially, prenatal diagnosis of beta-thalassaemia. (literal)

Prodotto di

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• La Talassemia. La malattia monogenica più diffusa in sardegna: patologia molecolare, clinica e terapia. (ME.P03.008.001) (Modulo)

Autore CNR

• ALESSANDRA MELONI (Persona)
• VALERIA FAA' (Persona)
• ANTONIO CAO (Unità di personale interno)

Incoming links:

Autore CNR di

• VALERIA FAA' (Persona)
• ALESSANDRA MELONI (Persona)
• ANTONIO CAO (Unità di personale interno)

Prodotto

• Istituto di Ricerca Genetica e Biomedica (IRGB) (Istituto)
• La Talassemia. La malattia monogenica più diffusa in sardegna: patologia molecolare, clinica e terapia. (ME.P03.008.001) (Modulo)

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

• British journal of haematology (Rivista)