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Hemoglobin
international journal for hemoglobin research
Volume 14, 1990 - Issue 4
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Original Article

A New β-Thalassemia Mutation Produced by a Single Nucleotide Substitution in the Conserved Dinucleotide Sequence of the IVS-I Consensus Acceptor Site (Ag→AA)

G. Deidda Istituto di Biologia Cellulare, CNR 00137, Roma, Italy
,
A. Novelletto Dipartimento di Biologia, Universita di Tor Vergata, 00173, Roma, Italy
,
M. Hafez Pediatric Genetic Unit, University of El-Mansoura Mansoura, Egypt
,
Y. Al-Tonbary Pediatric Genetic Unit, University of El-Mansoura Mansoura, Egypt
,
L. Felicetti Istituto di Biologia Cellulare, CNR 00137, Roma, Italy
,
L. Terrenato Dipartimento di Biologia, Universita di Tor Vergata, 00173, Roma, Italy
&
B. Colombo Istituto di Biologia Cellulare, CNR 00137, Roma, Italy
 show all
Pages 431-440 | Received 19 Dec 1989, Accepted 13 Jun 1990, Published online: 07 Jul 2009

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Amel Haj Khelil, Sabri Denden, Nadia Leban, Houria Daimi, Ramzi Lakhdhar, Gérard Lefranc, Jemni Ben Chibani & Pascale Perrin. (2010) Hemoglobinopathies in North Africa: A Review. Hemoglobin 34:1, pages 1-23.
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J. S. Waye, S. Borys, B. Eng, M. Patterson, D. H. K. Chui, O.M.K. Badr El-Din, M. Khairy Aref & Z. Afify. (1999) Spectrum of β-Thalassemia Mutations in Egypt. Hemoglobin 23:3, pages 255-261.
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T. H. J. Huisman & M. F. H. Carver. (1998) The β-and -Thalassemia Repository (Ninth Edition; Part I). Hemoglobin 22:2, pages 169-195.
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E. Baysal & M. F. H. Carver. (1995) The β- and δ-Thalassemia Repository (Eighth Edition). Hemoglobin 19:3-4, pages 213-236.
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T. H. J. Huisman. (1993) The β- and δ-Thalassemia Repository (Seventh Edition). Hemoglobin 17:5, pages 479-499.
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T. H. J. Huisman. (1992) The β- and δ-Thalassemia Repository. Hemoglobin 16:4, pages 237-258.
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Articles from other publishers (9)

Chaima Kasmi, Yessine Amri, Sondess Hadj-Fredj, Sabrine Oueslati, Malek Dabboussi, Rahma Mahjoub, Sana Hammami, Imen Aljane, Faika Ben Mami, Henda Jamoussi, Taieb Messaoud & Amina Bibi. (2021) Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations. Molecular Biology Reports 48:8, pages 5923-5933.
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Tânia Carlice-dos-Reis, Jaime Viana, Fabiano Cordeiro Moreira, Greice de Lemos Cardoso, João Guerreiro, Sidney Santos & Ândrea Ribeiro-dos-Santos. (2017) Investigation of mutations in the HBB gene using the 1,000 genomes database. PLOS ONE 12:4, pages e0174637.
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S. AGARWAL, P. M. TAMHANKAR, R. KUMAR & A. DALAL. (2010) Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93‐2A > C) case of thalassaemia major. International Journal of Laboratory Hematology 32:3, pages 369-372.
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ES Edison, RV Shaji, SG Devi, A Moses, A Viswabandhya, V Mathews, B George, A Srivastava & M Chandy. (2008) Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clinical Genetics 73:4, pages 331-337.
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D.J. Weatherall & J.B. Clegg. 2001. The Thalassaemia Syndromes. The Thalassaemia Syndromes 733 821 .
G.O. Tadmouri, O. Bileno?lu, S. Kantarc?H. Kayserili, P. Perrin & A.N. Ba?ak. (2000) A rare mutation [IVS-I-130 (G-A)] in a Turkish ?-thalassemia major patient. American Journal of Hematology 63:4, pages 223-225.
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G. Schilirò, F. di Gregorio, P. Samperi, E. Mirabile, R. Liang, M. A. Cürük, Z. Ye & T. H. J. Huisman. (2006) Genetic heterogeneity of β‐thalassemia in southeast sicily. American Journal of Hematology 48:1, pages 5-11.
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M. Renda, A. Maggio, T.C. Warren & H.H. KazazianJr.Jr.. (1992) Detection of an IVS-1 3′ end (G-C) β-thalassemia mutation in the AG invariant dinucleotide of the acceptor splice site in a Sicilian subject. Genomics 13:1, pages 234-235.
Crossref
G. Deidda, A. Novelletto, M. Hafez†M. El‐Ziny, L. Terrenato & L. Felicetti. (2008) A new β‐thalassaemia frameshift mutation detected by PCR after selective hybridization to immobilized oligonucleotides. British Journal of Haematology 79:1, pages 90-92.
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