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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 2
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Original Article

A Novel Mutation of the α2-Globin causing α+-Thalassemia: Hb Plasencia [α125(H8)Leu→Arg (α2)

Guillermo Martin Servicio de Hematología y Hemoterapia del Hospital Virgen del Puerto, Plasencia, Spain
, M.D.,
Ana Villegas Servicio de Hematología y Hemoterapia del Hospital Clinico San Carlos, Madrid, SpainCorrespondence[email protected]
,
Fernando Ataulfo Gonzalez Servicio de Hematología y Hemoterapia del Hospital Clinico San Carlos, Madrid, Spain
,
Paloma Ropero Servicio de Hematología y Hemoterapia del Hospital Clinico San Carlos, Madrid, Spain
,
Ricardo Hojas Servicio de Hematología y Hemoterapia del Hospital Clinico San Carlos, Madrid, Spain
,
Marta Polo Servicio de Hematología y Hemoterapia del Hospital Clinico San Carlos, Madrid, Spain
,
Marta Mateo Servicio de Hematología y Hemoterapia del Hospital Clinico San Carlos, Madrid, Spain
,
Maria Salvador Servicio de Hematología y Hemoterapia del Hospital Clinico San Carlos, Madrid, Spain
&
Celina Benavente Servicio de Hematología y Hemoterapia del Hospital Clinico San Carlos, Madrid, Spain
 show all
Pages 113-117 | Received 23 Nov 2004, Accepted 10 Jan 2005, Published online: 09 Nov 2010

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Agathe Horri-Naceur & David J. Timson. (2020) In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia. Hemoglobin 44:2, pages 89-103.
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Elizabete Cunha, Celeste Bento, Ana Oliveira, Luís Relvas, Joana Neves, Mariline Gameiro, Cristina Barros, Ana Araújo, Ana Macedo, Paula Rocha, Ricardo Costa, Tabita Maia & M. Letícia Ribeiro. (2013) Hb Plasencia [α125(H8)Leu→Arg (α2)] is a Frequent Cause of α+-Thalassemia in the Portuguese Population. Hemoglobin 37:2, pages 183-187.
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Celeste Bento, Ana Catarina Oliveira, Joana Neves, Mariline Gameiro, Elizabete Cunha, Margarida Coucelo, Ricardo Marques Costa, José Barbot, Emilia Costa, Carlos Fernández-Lago & M. Leticia Ribeiro. (2012) Hb Iberia [α104(G11)Cys → Arg,TGC>CGC (α2) (HBA2:c.313T>C)], a New α-Thalassemic Hemoglobin Variant Found in the Iberian Peninsula: Report of Six Cases. Hemoglobin 36:6, pages 517-525.
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Loïc Garçon, Achille Iolascon, Serge Pissard, Maria R. Esposito, Roberta Russo, Odile Fenneteau, Madeleine Fénéant-Thibault, Hermann Heimpel & Jean Delaunay. (2010) A Dyserythropoietic Anemia Associated with Homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), A Variant with an Unstable α Chain. Hemoglobin 34:6, pages 576-581.
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Judith O. Kaufmann, Marion Phylipsen, Catherine Neven, Wim Huisman, Peter van Delft, Margreet Bakker-Verweij, Sandra G.J. Arkesteijn, Cornelis L. Harteveld & Piero C. Giordano. (2010) Hb St. Truiden [α68(E17)Asn→His] and Hb Westeinde [α125(H8)Leu→Gln]: Two New Abnormalities of the α2-Globin Gene. Hemoglobin 34:5, pages 439-444.
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Henri Wajcman, Jan Traeger-Synodinos, Ioannis Papassotiriou, Piero C. Giordano, Cornelis L. Harteveld, Véronique Baudin-Creuza & John Old. (2008) Unstable and Thalassemic α Chain Hemoglobin Variants: A Cause of Hb H Disease and Thalassemia Intermedia. Hemoglobin 32:4, pages 327-349.
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