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Hemoglobin
international journal for hemoglobin research
Volume 17, 1993 - Issue 1
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Original Article

β-Thalassehia Mutations in the Portuguese; High Frequencies of Two Alleles in Restricted Populations

G. P. Tamagnini Department of Hematology, Centro Hospital a de Coimbra, 3000, Coimbra, Portugal
,
P. Gonçalves Department of Hematology, Centro Hospital a de Coimbra, 3000, Coimbra, Portugal
,
M. L. S. Ribeiro Department of Hematology, Centro Hospital a de Coimbra, 3000, Coimbra, Portugal; Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
,
J. Kaeda Department of Haematology, Royal Post-Graduate Medical School Hammersmith Hospital, London, W12 OHS, England
,
F. Kutlar Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
,
E. Baysal Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
&
T. H. J. Huisman Department of Biochemistry and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
 show all
Pages 31-40 | Received 03 Aug 1992, Published online: 07 Jul 2009

Citations (23)

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Roshan Colah, Ajit Gorakshakar & Anita Nadkarni. (2010) Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders. Expert Review of Hematology 3:1, pages 103-117.
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Mohammad A. Hosseinpour Feizi, Abbas A. Hosseinpour Feizi, Nasser Pouladi, Mehdi Haghi & Parvin Azarfam. (2008) Molecular Spectrum of β-Thalassemia Mutations in Northwestern Iran. Hemoglobin 32:3, pages 255-261.
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James D. Hoyer, Jason K. Baxter, Anna M. Moran, Kathleen S. Kubic & W. Christopher Ehmann. (2005) Two Unstable β Chain Variants Associated with β-Thalassemia: Hb Miami [β116(G18)His→Pro], and Hb Hershey [β70(E14)Ala→Gly], and a Second Unstable Hb Variant at β70: Hb Abington [β70(E14)Ala→Pro]. Hemoglobin 29:4, pages 241-248.
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Ana Villegas, Paloma Ropero, Fernando A. González, Eduardo Anguita & Domingo Espinós. (2001) THE THALASSEMIA SYNDROMES: MOLECULAR CHARACTERIZATION IN THE SPANISH POPULATION. Hemoglobin 25:3, pages 273-283.
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M. G. Valianou, A. Kouvatsi, H. Hassapopoulou-Matamis, A. Astrinidis & C. Triantaphyllidis. (1999) Heterogeneity of four β-thalassemia mutations in Greece. Hemoglobin 23:1, pages 79-82.
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M. L. Ribeiro, P. Gonplves, E. Cunha, C. Bentol, H. Almeida, J. Pereira, G. Martin Núñez & G. P. Tamagnini. (1997) Genetic Heterogeneity of β-Thalassemia in Populations of the Iberian Peninsula. Hemoglobin 21:3, pages 261-269.
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Articles from other publishers (17)

Michael D. Diamantidis, Rebecca-Anastasia Karanikola, Chrysoula Polyzoudi, Sophia Delicou, Achilles Manafas, Helen Savera, Aikaterini Xydaki, Angeliki Kotsiafti, Evangelos Tsangalas, Georgia Ikonomou, Eirini Mani, Konstantinos Ntoulas, Evangelos Alexiou, Ioanna Argyrakouli, John Koskinas & Paraskevi Fotiou. (2023) Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype. Journal of Molecular Medicine.
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Cailin Nieuwenhuizen, Tshiphiri Netshidzivhani & Johan Potgieter. (2022) Establishment of haemoglobin A2 reference intervals in Pretoria, South Africa: A retrospective secondary data analysis. African Journal of Laboratory Medicine 11:1.
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Josu de la Fuente, Eliane Gluckman, Julie Makani, Paul Telfer, Lawrence Faulkner, Selim Corbacioglu, Persis Amrolia, Marc Ansari, Adriana Balduzzi, Arnaud Dalassier, Jean-Hugues Dalle, Cristina Hereda Diaz, Tobias Feuchtinger, Franco Locatelli, Giovanna Lucchini, Jaques-Emmanuel Galimard, Marta Gonzalez Vincent, Rupert Handgretinger, Katharina Kleinschmidt, Anita Lawitschka, Antonio Perez Martinez, Christina Peters, Vanderson Rocha, Annalisa Ruggeri, Petr Sedlacek, Peter Svec, Jacek Toporski & Akif Yesilipek. (2020) The role of haematopoietic stem cell transplantation for sickle cell disease in the era of targeted disease-modifying therapies and gene editing. The Lancet Haematology 7:12, pages e902-e911.
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Nikolaos Sousos, Despoina Adamidou, Philippos Klonizakis, Alexandra Agapidou, Stamatia Theodoridou, Georgios Spanos, Kyriakos Psarras, Evaggelia Vetsiou, Timoleon-Achilleas Vyzantiadis & Efthymia Vlachaki. (2017) Presence of the IVS-I-6-Mutated Allele in Beta-Thalassemia Major Patients Correlates with Extramedullary Hematopoiesis Incidence. Acta Haematologica 137:3, pages 175-182.
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Greice Lemos Cardoso, Silvania Yukiko Lins Takanashi & João Farias Guerreiro. (2012) Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura. Genetics and Molecular Biology 35:3, pages 553-556.
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A Babameto-Laku, A Mitre, S Berisha, V Mokini & D Roko. (2011) Molecular Genetic Characterization of β-Thalassemia and Sickle Cell Syndrome in the Albanian Population. Balkan Journal of Medical Genetics 14:1, pages 45-50.
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Antonino Giambona, Cristina Passarello, Disma Renda & Aurelio Maggio. (2009) The significance of the hemoglobin A2 value in screening for hemoglobinopathies. Clinical Biochemistry 42:18, pages 1786-1796.
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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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R. Talmaci, J. Traeger‐Synodinos, E. Kanavakis, D. Coriu, D. Colita & L. Gavrila. (2007) Scanning of β‐globin gene for identification of β‐thalassemia mutation in Romanian population. Journal of Cellular and Molecular Medicine 8:2, pages 232-240.
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D.J. Weatherall & J.B. Clegg. 2001. The Thalassaemia Syndromes. The Thalassaemia Syndromes 733 821 .
José M. Cabeda, Cristina Correia, Alexandra Estevinho, Carla Simões, Maria Luis Amorim, Luciana Pinho & Benvindo JustiçA. (2005) Unexpected pattern of β‐globin mutations in β‐thalassaemia patients from northern Portugal. British Journal of Haematology 105:1, pages 68-74.
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Jose M. Cabeda, Cristina Correia, Alexandra Estevinho, Carla Simoes, Maria Luis Amorim, Luciana Pinho & Benvindo JusticA. (1999) Unexpected pattern of beta-globin mutations in beta-thalassaemia patients from northern Portugal. British Journal of Haematology 105:1, pages 68-74.
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Maria de Fátima Sonati, Jaspal Kaeda, Elza Miyuki Kimura, Fernando Ferreira Costa & Lucio Luzzatto. (1998) Mild clinical expression of S-<FONT FACE=Symbol>b</font> thalassemia in a Brazilian patient with the <FONT FACE=Symbol>b</font>+ IVS-I-6 (T<FONT FACE=Symbol>®</font>C) mutation. Genetics and Molecular Biology 21:4, pages 431-433.
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Jonathan Flint, Rosalind M. Harding, Anthony J. Boyce & John B. Clegg. (1998) 1 The population genetics of the haemoglobinopathies. Baillière's Clinical Haematology 11:1, pages 1-51.
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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.
Crossref
D. G. Efremov, A. J. Dimovski, E. Baysal, Z. Ye, A. D. Adekile, M. L. S. Ribeiro, G. Schiliro, Ç. Altay, A. Gürgey, G. D. Efremov & T. H. J. Huisman. (2008) Possible factors influencing the haemoglobin and fetal haemoglobin levels in patients with β‐thalassaemia due to a homozygosity for the IVS‐I‐6 (T→C) mutation. British Journal of Haematology 86:4, pages 824-830.
Crossref
A. J. Dimovski, A. D. Adekile, V. Divoky, E. Baysal & T. H. J. Huisman. (2006) Polymorphic pattern of the (AT) x (T) y motif at −530 5′ to the β‐globin gene in over 40 patients homozygous for various β‐thalassemia mutations . American Journal of Hematology 45:1, pages 51-57.
Crossref

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