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Normal δ globin gene sequence in carrier of the silent −101 (C‐T) β‐thalassemia mutation with normal HbA2 level

2001; Wiley; Volume: 67; Issue: 1 Linguagem: Inglês

10.1002/ajh.1079

1096-8652

Maria Serafina Ristaldi, Stefania Casula, Susanna Porcu, Antonio Cao,

Hemoglobinopathies and Related Disorders

American Journal of HematologyVolume 67, Issue 1 p. 58-58 Letters & CorrespondenceFree Access Normal δ globin gene sequence in carrier of the silent −101 (C-T) β-thalassemia mutation with normal HbA2 level Maria Serafina Ristaldi, Maria Serafina Ristaldi Istituto di Ricerche sulle Talassemie e Anemie Mediterranee del Consiglio Nazionale delle Ricerche, Selargius, ItalySearch for more papers by this authorStefania Casula, Stefania Casula Istituto di Ricerche sulle Talassemie e Anemie Mediterranee del Consiglio Nazionale delle Ricerche, Selargius, ItalySearch for more papers by this authorSusanna Porcu, Susanna Porcu Istituto di Ricerche sulle Talassemie e Anemie Mediterranee del Consiglio Nazionale delle Ricerche, Selargius, ItalySearch for more papers by this authorAntonio Cao, Antonio Cao Istituto di Ricerche sulle Talassemie e Anemie Mediterranee del Consiglio Nazionale delle Ricerche, Selargius, ItalySearch for more papers by this author Maria Serafina Ristaldi, Maria Serafina Ristaldi Istituto di Ricerche sulle Talassemie e Anemie Mediterranee del Consiglio Nazionale delle Ricerche, Selargius, ItalySearch for more papers by this authorStefania Casula, Stefania Casula Istituto di Ricerche sulle Talassemie e Anemie Mediterranee del Consiglio Nazionale delle Ricerche, Selargius, ItalySearch for more papers by this authorSusanna Porcu, Susanna Porcu Istituto di Ricerche sulle Talassemie e Anemie Mediterranee del Consiglio Nazionale delle Ricerche, Selargius, ItalySearch for more papers by this authorAntonio Cao, Antonio Cao Istituto di Ricerche sulle Talassemie e Anemie Mediterranee del Consiglio Nazionale delle Ricerche, Selargius, ItalySearch for more papers by this author First published: 22 March 2001 https://doi.org/10.1002/ajh.1079Citations: 3AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES 1Pirastu M, Ristaldi MS, Loudianos G, Murru S, Sciarratta GV, Parodi MI, Leone D, Agosti S, Cao, A. Molecular analysis of atypical β-thalassemia heterozygotes. Ann NY Acad Sci 1990; 612: 90– 97. 2Oggiano L, Guiso L, Frogheri L, Loudianos G, Pistidda P, Rimini E, Pirastu M, Cao A, Longinotti M. A novel Mediterranean “delta beta-thalassemia” determinant containing the delta (+)27 and beta (0) 39 point mutations in-cis. Am J Haematol 1994; 45: 81– 84. 3Gonzalez-Redondo, JM, Stoming TA, Kutlar A, Lanclos KD, Howard EF, Fei, YJ, Aksoy M, Altay C, Curgey A, Basak, AN, Efremov GD, Petkov G, Huisman THJ. A C-T substitution at nucleotide −101 in a conserved sequence of the promoter region of the β-globin gene is associated with “silent” β-thalassemia. Blood 1989; 73: 1705– 1711. 4Ristaldi MS, Murru S, Loudianos G, Casula L, Porcu S, Pigheddu D, Fanni B, Sciarratta GV, Agosti S, Parodi MI, Leone D, Camaschella C, Serra A, Pirastu M, Cao A. The C-T substitution in the distal CACCC box of the β-globin gene promoter is a common cause of silent β-thalassaemia in the Italian population. Br J Haematol 1989; 74: 480– 486. 5Maragoudaki E, Kanavakis J, Traege-Synodinos J, Vrettou C, Tzetis A, Metaxotou-Mavrommati A, Kattamis C. Molecular, haematological and clinical studies of the −101 C-T substitution of the β-globin gene promoter in 25 β-thalassemia intermedia patients and 45 heterozygous. Br J Haematol 1999; 107: 699– 706. Citing Literature Volume67, Issue1May 2001Pages 58-58 ReferencesRelatedInformation