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Hemoglobin
international journal for hemoglobin research
Volume 15, 1991 - Issue 4
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BriefNote Article

A Mild Thalassemia Major Resulting from a Compound Heterozygosity for the IVS-11-1 (G→A) Mutation and the Rare T→C Mutation at the Polyadenylation Site

C. Altay Children's Medical Center Hacettepe University, Ankara, Turkey
,
A. Gurgey Children's Medical Center Hacettepe University, Ankara, Turkey
,
R. Öner Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
,
A. Kutlar Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
,
F. Kutlar Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
&
T. H. J. Huisman Department of Cell and Molecular Biology, Medical College of Georgia, Augusta, GA, 30912-2100, USA
Pages 327-330 | Received 12 Jun 1990, Accepted 20 Mar 1997, Published online: 07 Jul 2009

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Philippe Lacan, Bénédicte Ponceau, Martine Aubry & Alain Francina. (2003) Mild Hb S-β+-Thalassemia with a Deletion of Five Nucleotides at the Polyadenylation Site of the β-Globin Gene. Hemoglobin 27:4, pages 257-260.
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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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Articles from other publishers (9)

Fatou G Tall, Serigne Saliou Mbancké, El hadji M Ndour, Diadji Ngom & Philippe Joly. (2023) Clinical, Biochemical, and Hematological Presentation of a ß (+) Thalassemia due to the Poly A (T− > C) Mutation (HBB c.*110T > C (rs33978907)) Discovered in a Senegalese Family. The Journal of Applied Laboratory Medicine 8:4, pages 821-825.
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Johannes Linder, Alyssa La Fleur, Zibo Chen, Ajasja Ljubetič, David Baker, Sreeram Kannan & Georg Seelig. (2022) Interpreting neural networks for biological sequences by learning stochastic masks. Nature Machine Intelligence 4:1, pages 41-54.
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Adivitch Sripusanapan, Arunee Phusua, Kanda Fanhchaksai & Pimlak Charoenkwan. (2020) Compound heterozygosity of a silent beta‐thalassemia mutation at the 3′‐untranslated region ( HBB : c.*132 C>T) and beta‐zero thalassemia results in thalassemia intermedia . Pediatric Blood & Cancer 67:4.
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M. Vinciguerra, C. Passarello, F. Cassarà, F. Leto, M. Cannata, G. Calvaruso, R. Di Maggio, D. Renda, A. Maggio & A. Giambona. (2016) Co-heredity of silent CAP + 1570 T>C ( HBB :c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia . International Journal of Laboratory Hematology 38:1, pages 17-26.
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T. Bilgen, O. A. Clark, Z. Ozturk, M. Akif Yesilipek & I. Keser. (2012) Two novel mutations in the 3′ untranslated region of the beta‐globin gene that are associated with the mild phenotype of beta thalassemia. International Journal of Laboratory Hematology 35:1, pages 26-30.
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Roshan Colah, Anita Nadkarni, Ajit Gorakshakar, Supriya Phanasgaonkar, Reema Surve, P.G. Subramaniam, Nagnath Bondge, Kamala Pujari, Kanjaksha Ghosh & Dipika Mohanty. (2004) Impact of β globin gene mutations on the clinical phenotype of β thalassemia in India. Blood Cells, Molecules, and Diseases 33:2, pages 153-157.
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S. K. Ma, A. C. W. Lee, A. Y. Y. Chan & L. C. Chan. (2001) A novel AATAAACATAAA mutation at the polyadenylation site of the beta-globin gene. British Journal of Haematology 115:1, pages 231-231.
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S. K. Ma, A. C. W. Lee, A. Y. Y. Chan & L. C. Chan. (2001) A novel A ATAAA→ C ATAAA mutation at the polyadenylation site of the β-globin gene . British Journal of Haematology 115:1, pages 231-231.
Crossref
D.J. Weatherall & J.B. Clegg. 2001. The Thalassaemia Syndromes. The Thalassaemia Syndromes 733 821 .

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