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Hemoglobin
international journal for hemoglobin research
Volume 19, 1995 - Issue 3-4
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Original Article

The β- and δ-Thalassemia Repository (Eighth Edition)

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Pages 213-236 | Published online: 07 Jul 2009

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (22)

Othman E. Soliman, Sohier Yahia, Amany Shouma, Hala K. Shafiek, Ashraf E. Fouda, Hanan Azzam, Nashwa K. Abousamra, Rabab Mahfouz, Enas F. Goda & Solafa A. El-Sharawy. (2010) Reverse hybridization StripAssay detection of β-thalassemia mutations in northeast Egypt. Hematology 15:3, pages 182-186.
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Atefeh Valaei, Fatemeh Bayat, Alireza Kordafshari, Sirous Zeinali & Morteza Karimipoor. (2009) A Novel Polymorphism Causes A Different Restriction Pattern by RsaI in the β-Globin Gene Cluster: Application in Prenatal Diagnosis. Hemoglobin 33:6, pages 417-421.
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J. M. Old. (2007) Screening and genetic diagnosis of haemoglobinopathies. Scandinavian Journal of Clinical and Laboratory Investigation 67:1, pages 71-86.
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Supatra Sirichotiyakul, Rattika Saetung & Torpong Sanguansermsri. (2003) Analysis of β‐Thalassemia Mutations in Northern Thailand Using an Automated Fluorescence DNA Sequencing Technique. Hemoglobin 27:2, pages 89-95.
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M. Akif Çürük, Abdullah Arpaci, Gülen Attila, Abdullah Tuli, Yurdanur KilinÇ, K´ymet Aksoy & Guneş T. Yüreğir. (2001) GENETIC HETEROGENEITY OF β-THALASSEMIA AT ÇUKUROVA IN SOUTHERN TURKEY. Hemoglobin 25:2, pages 241-245.
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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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K. Kyriacou, F. Al Quobaili, E. Pavlou, G. Christopoulos, P. Ioannou & M. Kleanthous. (2000) Molecular Characterization of β-Thalassemia in Syria. Hemoglobin 24:1, pages 1-13.
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X. Feleki, H. Najmabadi, R. Karimi-Nejad, G. Christopoulos & M. Kleanthous. (2000) Identification of a Novel β0−−Thalassemia Mutation, Codons 80181 (−C), in an Iranian Family. Hemoglobin 24:4, pages 319-321.
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L. Zahed, M. Qatanani, M. Nabulsi & A. Taher. (2000) β-Thalassemia Mutations and Haplotype Analysis in Lebanon. Hemoglobin 24:4, pages 269-276.
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S. Agarwal, Y. Hattori, U. R. Gupta & S. S. Agarwal. (1999) A Novel Indian β-Thalassemia Mutation: Hb Lucknow [β8(A5)Lys→Arg]. Hemoglobin 23:3, pages 263-265.
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Atika Mansoor, Qasim Ayub, Azmat Talat & Raheel Qamar. (1998) The Spectrum of Mutations In β-Thalassaemic Patients and Carriers From Punjab and N.W.F.J. in Pakistan. Natural Product Letters 12:3, pages 199-207.
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S. F. Fonseca, J. Kerbauy, C. Escrivao, M. S. Figueiredo, R. Cancado, V. R. Arruda, S. T. O. Saad & F. F. Costa. (1998) Genetic Analysis of β-Thalassemia Major and β-Thalassemia Intermedia in Brazil. Hemoglobin 22:3, pages 197-207.
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J. Li, M. Plonczynski, M. H. Steinberg, A. Kheradpour & B. P. Alter. (1998) Severe Hb S-β+ Thalassemia Caused by IVS-I Splice Site Mutations. Hemoglobin 22:4, pages 383-386.
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S. N. Khan & S. Riazuddin. (1998) Molecular Characterization of β-Thalassemia in Pakistan. Hemoglobin 22:4, pages 333-345.
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D. Williamson, K. P. Brown, J. V. Langdown & T. P. Baglin. (1997) Mild Thalassemia Intermedia Resulting from a New Insertion/Frameshift Mutation in the β-Globin Gene. Hemoglobin 21:6, pages 485-493.
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Y. Ohba, Y. Hattori, T. Harano, K. Harano, Y. Fukumaki & H. Ldeguchi. (1997) β-Thalassemia Mutations in Japanese and Koreans. Hemoglobin 21:2, pages 191-200.
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N. S. Smetanina, L-H. Gu, L. Simjanovska, A. Momirovska, G. H. Petkov, A. D. Adekile, G. D. Efremov & T. H. J. Huisman. (1997) α-, β-, and y-mRNA Levels in β-Thalassemia; Transcriptional and Translational Differences in Heterozygotes, Homozygotes, and Compound Heterozygotes. Hemoglobin 21:1, pages 27-39.
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N. S. Smetanina, T. P. Molchanova & T. H. J. Huisman. (1997) Analysis of Mrna from Red Cells of Patients with Thalassemia and Hemoglobin Variants. Hemoglobin 21:5, pages 437-467.
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A. C. Gorakshakar, C. P. Lulla, A. H. Nadkarni, A. R. Pawar, S. N. Desai, R. B. Colah & D. Mohanty. (1997) Prenatal Diagnosis of β-Thalassemia Among Indians using Denaturing Gradient Gel Electrophoresis. Hemoglobin 21:5, pages 421-435.
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L.M. Irenge, I. Derclaye, M. Heusterspreute, J.L. Gala & M. Philippe. (1997) Beta-Thalassaemia in Indigenous Belgians: An Update. Acta Clinica Belgica 52:3, pages 171-175.
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S. Rahbar, G. Nozari, G. Forrest, T. Gelbart, S. J. Forman & E. Beutler. (1995) A Novel Intrachromosomal Rearrangement in the β-Globin Gene Fd in An African-American Family. Hemoglobin 19:6, pages 375-388.
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G. Christopoulos, G.M. Ezzat & M. Kleanthous. (2012) Use of denaturing gradient gel electrophoresis in screening unknown β-thalassemia mutations in Egyptian patients. Egyptian Journal of Medical Human Genetics 13:3, pages 343-349.
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Z. KÓSA, T. NAGY, E. NAGY, F. FAZAKAS & L. GÓTH. (2011) Decreased blood catalase activity is not related to specific beta‐thalassemia mutations in Hungary. International Journal of Laboratory Hematology 34:2, pages 172-178.
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John M. Old. 2009. Genetic Disorders and the Fetus. Genetic Disorders and the Fetus 646 679 .
Shirley Henderson, Adele Timbs, Janice McCarthy, Alice Gallienne, Margaretha Van Mourik, Gillian Masters, Alison May, Mohamed S.M. Khalil, Anna Schuh & John Old. (2009) Incidence of haemoglobinopathies in various populations — The impact of immigration. Clinical Biochemistry 42:18, pages 1745-1756.
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Meow-Keong Thong, J. A. M. A. Tan, K. L. Tan & S. F. Yap. (2005) Characterisation of β-globin Gene Mutations in Malaysian Children: A Strategy for the Control of β-Thalassaemia in a Developing Country. Journal of Tropical Pediatrics 51:6, pages 328-333.
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Hsin-Kai Liao, Yi-Ning Su, Hung-Yi Kao, Chia-Cheng Hung, Hsueh-Ting Wang & Yu-Ju Chen. (2005) Parallel minisequencing followed by multiplex matrix-assisted laser desorption/ionization mass spectrometry assay for β-thalassemia mutations. Journal of Human Genetics 50:3, pages 139-150.
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Vichai Laosombat, Malai Wongchanchailert, Benjamas Sattayasevana, Aranya Wiriyasateinkul & Supan Fucharoen. (2008) Clinical and hematological features of codon 17, A‐T mutation of β‐thalassemia in Thai patients. European Journal of Haematology 66:2, pages 126-129.
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Xiang-Min Xu, Zhi-Qin Li, Zhong-Ying Liu, Xiong-Lin Zhong, Yong-Zhong Zhao & Qiu-Hua Mo. (2000) Molecular characterization and PCR detection of a deletional HPFH: Application to rapid prenatal diagnosis for compound heterozygotes of this defect with ?-thalassemia in a Chinese family. American Journal of Hematology 65:3, pages 183-188.
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A.C. Gorakshakar, A.R. Pawar, A.H. Nadkarni, C.Y. Lu, D. Mohanty, R. Krishnamoorthy, C. Besmond & R.B. Colah. (1999) Potential of denaturing gradient gel electrophoresis for scanning of ?-thalassemia mutations in India. American Journal of Hematology 61:2, pages 120-125.
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P. J. HO, G. W. HALL, L. Y. LUO, D. J. WEATHERALL & S. L. THEIN. (1998) Phenotypic Prediction in beta-Thalassemia. Annals of the New York Academy of Sciences 850:1 COOLEY'S ANEM, pages 436-441.
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RENZO GALANELLO & ANTONIO CAO. (1998) Relationship between Genotype and Phenotype: Thalassemia Intermediaa. Annals of the New York Academy of Sciences 850:1 COOLEY'S ANEM, pages 325-333.
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Pascale Perrin, Rachid Bouhassa, Leı̈la Mselli, Nathalie Garguier, Victor-Marc Nigon, Chouki Bennani, Dominique Labie & Guy Trabuchet. (1998) Diversity of sequence haplotypes associated with β-thalassaemia mutations in Algeria: implications for their origin. Gene 213:1-2, pages 169-177.
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G.O. Tadmouri, Ş. Tüzmen, H. Özçelik, A. Özer, S.M. Baig, E.B. Senga & A.N. Başak. (1998) Molecular and population genetic analyses of β-Thalassemia in Turkey. American Journal of Hematology 57:3, pages 215-220.
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Daniela S. Bassères, Dilmara L. Vicentim, Fernando F. Costa, Sara T.O. Saad & Hani Hassoun. (1998) β-Spectrin Promissão: A Translation Initiation Codon Mutation of the β-Spectrin Gene (ATG → GTG) Associated With Hereditary Spherocytosis and Spectrin Deficiency in a Brazilian Family. Blood 91:1, pages 368-369.
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A.R. Pawar, R.B. Colah & D. Mohanty. (1997) A Novel β+-Thalassemia Mutation (Codon 10 GCC → GCA) and a Rare Transcriptional Mutation (−28A → G) in Indians. Blood 89:10, pages 3888-3888.
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A.R. Pawar, R.B. Colah & D. Mohanty. (1997) A Novel β+-Thalassemia Mutation (Codon 10 GCC → GCA) and a Rare Transcriptional Mutation (−28A → G) in Indians. Blood 89:10, pages 3888-3888.
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Sürkü Tüzmen, A. Nazli Basak & Erol Baysal. (1997) Rare β-thalassemia mutation IVS-II-848 (C-A) first reported in a Turkish cypriot family. American Journal of Hematology 54:4, pages 338-339.
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Olga Drakoulakou, Elisavet Papapanagiotou, Afrodite Loutradi-Anagnostou & Manoussos Papadakis. (1997) δ-Thalassemic phenotype due to two “novel” δ-globin gene mutations: CD11[GTC → GGC (A8)-HbA2-pylos] and CD 85 [TTT → TCT (F1)-HbA2-etolia]. Human Mutation 9:4, pages 344-347.
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Deborah Rund, Varda Oron-Karni, Dvora Filon, Ada Goldfarb, Eliezer Rachmilewitz & Ariella Oppenheim. (1997) Genetic analysis of β-thalassemia intermedia in Israel: Diversity of mechanisms and unpredictability of phenotype. American Journal of Hematology 54:1, pages 16-22.
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