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Hemoglobin
international journal for hemoglobin research
Volume 23, 1999 - Issue 4
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Original Article

Hb Aghia Sophia [α62(E11)Val→0 (α1)], an “In-Frame” Deletion Causing α-Thalassemia

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Pages 317-324 | Received 27 May 1999, Accepted 21 Jun 1999, Published online: 07 Jul 2009

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Read on this site (7)

Henri Wajcman, Alexandre G. de Brevern, Jean Riou, Celine Latouche, Michael C. Marden & Serge Pissard. (2018) Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. Consequences of the 3D Structure and Resulting Phenotypes: Hb Choisy as an Example. Hemoglobin 42:5-6, pages 287-293.
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Karen G. Scheps, Silvia M. De Paula, Alicia R. Bitsman, Daniel H. Freigeiro, F. Nora Basack, Sandra P. Pennesi & Viviana Varela. (2013) Coinheritance of a Novel Mutation on the HBA1 Gene: c.187delG (p.W62fsX66) [codon 62 (–G) (α1)] with the α212 Patchwork Allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]. Hemoglobin 37:5, pages 492-500.
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Can Liao, Hai-Shen Tang, Ru Li & Dong-Zhi Li. (2013) Codon 62 (GTG>GCG, Val→Ala) (α1) (HBA1: c.188T>C) Causing Nondeletional α-Thalassemia in a Chinese Family. Hemoglobin 37:2, pages 188-191.
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Yin-Sheng Zhai, Hai-Shen Tang, Jian-Ying Zhou & Dong-Zhi Li. (2012) A Novel Case of Hb Phnom Penh: Codons 117/118 (+ATC) as a Cause of α+-Thalassemia. Hemoglobin 36:3, pages 289-292.
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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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Hajer Siala, Faida Ouali, Taieb Messaoud, Rachida Sfar & Slaheddine Fattoum. (2005) First Description in Tunisia of a Point Mutation at Codon 119 (CCT→TCT) in the α1-Globin Gene: Hb Groene Hart in Association with the − α3.7 Deletion. Hemoglobin 29:4, pages 263-268.
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Gerasimos Dimisianos, Joanne Traeger‐Synodinos, Christina Vrettou, Ioannis Papassotiriou & Emmanuel Kanavakis. (2004) A Rare 33 bp In‐Frame Deletion (α63–74 or α64–74 or α65–75) in the α1‐Globin Gene Causing α+‐Thalassemia: A Second Observation. Hemoglobin 28:2, pages 137-143.
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Articles from other publishers (7)

Samaneh Farashi & Hossein Najmabadi. (2015) Diagnostic pitfalls of less well recognized HbH disease. Blood Cells, Molecules, and Diseases 55:4, pages 387-395.
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Cornelis L Harteveld & Douglas R Higgs. (2010) α-thalassaemia. Orphanet Journal of Rare Diseases 5:1.
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Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. Weatherall. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 241 265 .
Martin H. Steinberg, Bernard G. Forget, Douglas R. Higgs & David J. WeatherallDouglas R. Higgs. 2010. Disorders of Hemoglobin. Disorders of Hemoglobin 239 240 .
Emmanuel Kanavakis, Ioannis Papassotiriou, Markissia Karagiorga, Christina Vrettou, Anna Metaxotou‐Mavrommati, Alexandra Stamoulakatou, Christos Kattamis & Joanne Traeger‐Synodinos. (2008) Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. British Journal of Haematology 111:3, pages 915-923.
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Emmanuel Kanavakis, Ioannis Papassotiriou, Markissia Karagiorga, Christina Vrettou, Anna Metaxotou-Mavrommati, Alexandra Stamoulakatou, Christos Kattamis & Joanne Traeger-Synodinos. (2000) Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience. British Journal of Haematology 111:3, pages 915-923.
Crossref
Joanne Traeger-Synodinos, Ioannis Papassotiriou, Anna Metaxotou-Mavrommati, Christina Vrettou, Alexandra Stamoulakatou & Emmanuel Kanavakis. (2000) Distinct Phenotypic Expression Associated with a New Hyperunstable Alpha Globin Variant (Hb Heraklion, α1cd37(C2)Pro>0): Comparison to Other α-Thalassemic Hemoglobinopathies. Blood Cells, Molecules, and Diseases 26:4, pages 276-284.
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