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Hemoglobin
international journal for hemoglobin research
Volume 16, 1992 - Issue 4
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Original Article

The β- and δ-Thalassemia Repository

Pages 237-258 | Published online: 07 Jul 2009

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Ghazi O. Tadmouri & A. Nazlı Başak. (2001) β-THALASSEMIA IN TURKEY: A REVIEW OF THE CLINICAL, EPIDEMIOLOGICAL, MOLECULAR, AND EVOLUTIONARY ASPECTS. Hemoglobin 25:2, pages 227-239.
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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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Articles from other publishers (31)

Maria Carmela Padula, Giuseppe Martelli, Marilena Larocca, Rocco Rossano & Attilio Olivieri. (2014) A novel homozygous stop-codon mutation in human HFE responsible for nonsense-mediated mRNA decay. Blood Cells, Molecules, and Diseases 53:3, pages 138-143.
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R. Girot & M. de Montalembert. (2006) Thalassémies chez l'enfant. EMC - Pédiatrie - Maladies infectieuses 1:3, pages 1-8.
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R. Girot & M. de Montalembert. (2006) Talasemias en el niño. EMC - Pediatría 41:4, pages 1-8.
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Kan-Zhi Liu, Kam Sze Tsang, Chi Kong Li, R Anthony Shaw & Henry H Mantsch. (2003) Infrared Spectroscopic Identification of β-Thalassemia. Clinical Chemistry 49:7, pages 1125-1132.
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Regine Witkowski, Otto Prokop, Eva Ullrich & Gundula ThielRegine Witkowski, Otto Prokop, Eva Ullrich & Gundula Thiel. 2003. Lexikon der Syndrome und Fehlbildungen. Lexikon der Syndrome und Fehlbildungen 31 1336 .
Regine Witkowski, Otto Prokop & Eva UllrichRegine Witkowski, Otto Prokop & Eva Ullrich. 1999. Lexikon der Syndrome und Fehlbildungen. Lexikon der Syndrome und Fehlbildungen 35 1198 .
Samir K. Ballas, Shiping P. Cai, Thomas Gabuzda & Farid F. Chehab. (1997) Molecular basis of asymptomatic β-thalassemia major in an African American individual. American Journal of Medical Genetics 69:2, pages 196-199.
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Wouter W. van Solinge, Bent Lind, Richard van Wijk, Herman Ch. Hart & Rob J. Kraaijenhagen. (1996) Clinical Expression of a Rare β-Globin Gene Mutation Co-Inherited with Haemoglobin E-Disease. Clinical Chemistry and Laboratory Medicine 34:12.
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Albino Bacolla, Michael J. Ulrich, Jacquelynn E. Larson, Timothy J. Ley & Robert D. Wells. (1995) An Intramolecular Triplex in the Human γ-Globin 5′-Flanking Region Is Altered by Point Mutations Associated with Hereditary Persistence of Fetal Hemoglobin. Journal of Biological Chemistry 270:41, pages 24556-24563.
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DAVID A. SAVAGE, NIGEL A. P. WOOD, JEFFREY L. BIDWELL, ALISON FITCHES, JOHN M. OLD & KAM M. HUI. (2008) Detection of β‐thalassaemia mutations using DNA heteroduplex generator molecules. British Journal of Haematology 90:3, pages 564-571.
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Regine Witkowski, Otto Prokop & Eva UllrichRegine Witkowski, Otto Prokop & Eva Ullrich. 1995. Lexikon der Syndrome und Fehlbildungen. Lexikon der Syndrome und Fehlbildungen 924 968 .
S. L. Thein. 1995. Hereditary Diseases and Blood Transfusion. Hereditary Diseases and Blood Transfusion 63 70 .
Bruce I. Sharon. (1994) Transfusion Therapy in Congenital Hemolytic Anemias. Hematology/Oncology Clinics of North America 8:6, pages 1053-1086.
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Maria Cristina Rosatelli, Alessandra Pischedda, Alessandra Meloni, Luisella Saba, Anna Pomo, Maurizio Travi, Silvia Fattore & Antonio Cao. (1994) Homozygous β-thalassaemia resulting in the β-thalassaemia carrier state phenotype. British Journal of Haematology 88:3, pages 562-565.
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Mary Petrou. (2008) The UK control programme for the haemoglobin disorders. Fetal and Maternal Medicine Review 6:4, pages 191-201.
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John S. Waye, Barry Eng, Nancy F. Olivieri & David H. K. Chui. (2005) Identification of a novel β 0 ‐ thalassaemia mutation in a greek family and subsequent prenatal diagnosis . Prenatal Diagnosis 14:10, pages 929-932.
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Joāo Goņalves, Paula Faustino, Joāo Lavinha, Lino Rosado, Maria Joio Peres & Maria Do Carmo Martins. (1994) An African origin for an “American black” β°-thalassemia mutation?. American Journal of Hematology 46:4, pages 373-374.
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Britta Landin, Stig Berglund & Bertil Lindoff. (2009) Hb Trollhättan [β20(B2)Val& RR; Glu] — a new haemoglobin variant with increased oxygen affinity causing erythrocytosis. European Journal of Haematology 53:1, pages 21-25.
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A. Cao, R. Galanello & M.C. Rosatelli. (1994) Genotype-phenotype correlations in β-thalassemias. Blood Reviews 8:1, pages 1-12.
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Alessandra Meloni, Maria Demurtas, Loredana Moi, Valeria Faà, Antonio Cao & Maria Cristina Rosatelli. (1994) A novel β-thalassemia mutation: Frameshift at codon 59 detected in an Italian carrier. Human Mutation 3:3, pages 309-311.
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W.‐B. Qin, E. Baysal, K. F. Wong, T. P. Molchanova, D. D. Pobedimskaya, S. Sharma, J. B. Wilson & T. H. J. Huisman. (2006) Quantities of α Q chain variants in heterozygotes with and without a concomitant β‐thalassemia trait . American Journal of Hematology 45:1, pages 91-93.
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B. Ringelhann, J. G. Szelenyi, M. Horanyi, M. Svobodova, V. Divoky, K. Indrak, S. Holl�n, A. Marosi, M. Laub & T. H. J. Huisman. (1993) Molecular characterization of ?-thalassemia in Hungary. Human Genetics 92:4, pages 385-387.
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A. J. Dimovski, D. G. Efremov, L. Jankovic, D. Plaseska. D. Juricic & G. D. Efremov. (2008) A β°‐thalassaernia due to a 1605 bp deletion of the 5‘β‐globin gene region. British Journal of Haematology 85:1, pages 143-147.
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Antonio Cao & Maria Cristina Rosatelli. (1993) 9 Screening and prenatal diagnosis of the haemoglobinopathies. Baillière's Clinical Haematology 6:1, pages 263-286.
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Swee Lay Thein. (1993) 6 β-Thalassaemia. Baillière's Clinical Haematology 6:1, pages 151-175.
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Frank Grosveld, Niall Dillon & Douglas Higgs. (1993) 2 The regulation of human globin gene expression. Baillière's Clinical Haematology 6:1, pages 31-55.
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V. Divoky, E. Baysal, G. Schiliro, S. P. Dibenedetto & T. H. J. Huisman. (2006) A mild type of Hb S‐β + ‐thalassemia [‐92(C→T)] in a sicilian family . American Journal of Hematology 42:2, pages 225-226.
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Barry Eng, David H. K. Chui, Janet Saunderson, Nancy F. Olivieri & John S. Waye. (1993) Identification of two novel β°-thalassemia mutations in a filipino family: Frameshift codon 67 (− TG) and a β-globin gene deletion. Human Mutation 2:5, pages 375-379.
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Ariella Oppenheim, Varda Oron, Dvora Filon, Clare C. Fearon, Eliezer A. Rachmilewitz, Haig H. Kazazian & Deborah Rund. (1993) Sporadic alleles, including a novel mutation, characterize β-thalassemia in ashkenazi jews. Human Mutation 2:2, pages 155-157.
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Vladimir Divoky, Emmanuel Bissé, Jerry B. Wilson, Li-Hao Gu, Heinrich Wieland, Irene Heinrichs, John F. Prior & Huisman Titus H.J.. (1992) Heterozygosity for the IVS-I-5(G→C) mutation with a G→A change at codon 18 (Val→Met; Hb Baden) in cis and a T→G mutation at codon 126 (Val→Gly; Hb Djonburi) in trans resulting in a thalassemia intermedia. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1180:2, pages 173-179.
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L. Saba, A. Meloni, R. Sardu, M. Travi, P. Primignani, M. C. Rosatelli & A. Cao. (1992) A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene. Human Mutation 1:5, pages 420-422.
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