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

An Initiation Codon Mutation as a Cause of β-Thalassemia in a Belgian Family

C. Wildmann Department of Clinical Biology, University of Louvain Laboratory of Clinical Molecular Biology, 1200, Brussels, Belgium
,
Y. Larondelle Department of Clinical Biology, University of Louvain Laboratory of Clinical Molecular Biology, 1200, Brussels, Belgium
,
J. L. Vaerman Department of Clinical Biology, University of Louvain Laboratory of Clinical Molecular Biology, 1200, Brussels, Belgium
,
R. Eeckels Department of Paediatrics, University of Leuven Gasthuisberg, 3000, Leuven, Belgium
,
P. Martiat Department of Clinical Biology, University of Louvain Laboratory of Clinical Molecular Biology, 1200, Brussels, Belgium
&
M. Philippel Department of Clinical Biology, University of Louvain Laboratory of Clinical Molecular Biology, 1200, Brussels, Belgium
Pages 19-30 | Received 13 Jul 1992, Accepted 20 Oct 1992, Published online: 07 Jul 2009

Citations (11)

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Rawand Shamoon, Ahmed Yassin & Amir Charkaneh. (2023) Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr). Hemoglobin 47:3, pages 118-121.
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Philippe Lacan, Martine Aubry, Nicole Couprie & Alain Francina. (2005) A Mutation of the β-Globin Gene Initiation Codon, ATG→AAG, Found in a French Caucasian Man. Hemoglobin 29:3, pages 225-228.
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S. N. Khan, S. Riazuddin & R. Galanello. (2000) Identification of Three Rare β-Thalassemia Mutations in the Pakistani Population. Hemoglobin 24:1, pages 15-22.
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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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Articles from other publishers (7)

Alexander W. Macharia, George Mochamah, Johnstone Makale, Thad Howard, Neema Mturi, Peter Olupot-Olupot, Anna Färnert, Russell E. Ware & Thomas N. Williams. (2022) Case Report: β-thalassemia major on the East African coast. Wellcome Open Research 7, pages 188.
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Alexander W. Macharia, George Mochamah, Sophie Uyoga, Carolyne M. Ndila, Gideon Nyutu, Metrine Tendwa, Emily Nyatichi, Johnstone Makale, Russell E. Ware & Thomas N. Williams. (2020) β‐Thalassemia pathogenic variants in a cohort of children from the East African coast. Molecular Genetics & Genomic Medicine 8:7.
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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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V. VIPRAKASIT, W. CHINCHANG, L. SUWANTHOL & V. S. TANPHAICHITR. (2005) Common origin of a rare beta-globin initiation codon mutation (ATGAGG) in Asians. Clinical and Laboratory Haematology 27:6, pages 409-415.
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John S. Waye, Barry Eng, Margaret Patterson, Ronald D. Barr & David H. K. Chui. (1997) De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a Northern European. American Journal of Hematology 56:3, pages 179-182.
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Britta Landin, Olle Rudolphi & BÖRje Ek. (2006) Initiation codon mutation (ATG → ATA) of the β‐globin gene causing β‐thalassemia in a Swedish family. American Journal of Hematology 48:3, pages 158-162.
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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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