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Hemoglobin
international journal for hemoglobin research
Volume 14, 1990 - Issue 2
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Original Article

An Initiation Codon Mutation as a Cause of a β-Thalassemia

L. Jankovic Department of Cell, Molecular Biology Medical College of Georgia, Augusta, GA, 30912-2100, USA; Macedonian Academy of Sciences and Arts Research Center for New Technologies, 91000, Skopje, Yugoslavia
,
G. D. Efremov Macedonian Academy of Sciences and Arts Research Center for New Technologies, 91000, Skopje, Yugoslavia
,
O. Josifovska Macedonian Academy of Sciences and Arts Research Center for New Technologies, 91000, Skopje, Yugoslavia
,
D. Juricic Research Unit, Department of Clinical Chemistry, University Hospital Dr. 0. Novosel, 41000, Zagreb, Yugoslavia
,
T. A. Stomingl Department of Cell, Molecular Biology Medical College of Georgia, Augusta, GA, 30912-2100, USA
,
A. Kutlar Research Unit, Department of Clinical Chemistry, University Hospital Dr. 0. Novosel, 41000, Zagreb, Yugoslavia
&
T. H. J. Huisman Department of Cell, Molecular Biology Medical College of Georgia, Augusta, GA, 30912-2100, USA
 show all
Pages 169-176 | Published online: 07 Jul 2009

Citations (31)

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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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Ajit C. Gorakshakar, Pearl V. Breganza, Stacy P. Colaco, Roshan F. Shaikh, Meenu Y. Bohra, Pratibha M. Sawant, Anita H. Nadkarni, Roshan B. Colah & Kanjaksha K. Ghosh. (2018) Rare β- and δ-Globin Gene Mutations in the Pathare Prabhus: Original Inhabitants of Mumbai, India. Hemoglobin 42:5-6, pages 297-301.
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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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T. P. Molchanova, Yu. V. Postnikov, L-H. Gu & T. H.J. Huisman. (1998) Historical Note: The β-Thalassemia Allele in the Noble Russian Family Lermontov is Identified as the ATG←ACG Change in the Initiation Codon. Hemoglobin 22:3, pages 283-286.
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T. H. J. Huisman & M. F. H. Carver. (1998) The β-and -Thalassemia Repository (Ninth Edition; Part I). Hemoglobin 22:2, pages 169-195.
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E. Baysal & M. F. H. Carver. (1995) The β- and δ-Thalassemia Repository (Eighth Edition). Hemoglobin 19:3-4, pages 213-236.
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S. Rahbar & G. Nozari. (1993) A Novel Initiation Codon Mutation (ATG→ATT) in a β-Thalassemia Patient. Hemoglobin 17:6, pages 557-562.
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C. Wildmann, Y. Larondelle, J. L. Vaerman, R. Eeckels, P. Martiat & M. Philippel. (1993) An Initiation Codon Mutation as a Cause of β-Thalassemia in a Belgian Family. Hemoglobin 17:1, pages 19-30.
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T. H. J. Huisman. (1993) The β- and δ-Thalassemia Repository (Seventh Edition). Hemoglobin 17:5, pages 479-499.
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M. S. Koo, S. I. Kim, H. I. Cho, Y. Hattori, Y. Yamashiro, M. Hoshitani, Y. Ohba, T. Miyaji, Ku. Yamamoto & Ki. Yamamoto. (1992) A β-Thalassemia Mutation Found in Korea. Hemoglobin 16:4, pages 313-320.
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T. H. J. Huisman. (1992) The β- and δ-Thalassemia Repository. Hemoglobin 16:4, pages 237-258.
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G. D. Efremov. (1992) Special Feature Hemoglobinopathies in Yugoslavia: an Update. Hemoglobin 16:6, pages 531-544.
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Y. Hattori, Y. Yamashiro, Y. Ohba, T. Miyaji, M. Morishita, Ku. Yamamoto, Ki. Yamamoto, S. Narai & A. Kimura. (1991) A New β-Thalassemia Mutation (Initiation Codon ATG→GTG) Found in the Japanese Population. Hemoglobin 15:4, pages 317-325.
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Articles from other publishers (17)

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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Jie Zhang, Jing He, Xiao-Hong Zeng, Shi-Jun Ge, Yu Huang, Jie Su, Xue-Mei Ding, Ji-Qing Yang, Yong-Jiu Cao, Hong Chen, Ying-Hong Zhang & Bao-Sheng Zhu. (2015) Genetic Heterogeneity of the β-Globin Gene in Various Geographic Populations of Yunnan in Southwestern China. PLOS ONE 10:4, pages e0122956.
Crossref
ES Edison, RV Shaji, SG Devi, A Moses, A Viswabandhya, V Mathews, B George, A Srivastava & M Chandy. (2008) Analysis of β globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clinical Genetics 73:4, pages 331-337.
Crossref
G Efremov. (2008) Thalassemias and Other Hemoglobinopathies in Former Yugoslavia. Balkan Journal of Medical Genetics 11:1, pages 11-26.
Crossref
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.
Crossref
Anju Gupta, Yukio Hattori, Usha R. Gupta, Swati Sarwai, Nitu Nigam, Pragya Singhal & Sarita Agarwal. (2003) Molecular Genetic Testing of β-Thalassemia Patients of Indian Origin and a Novel 8-bp Deletion Mutation at Codons 36/37/38/39. Genetic Testing 7:2, pages 163-168.
Crossref
D.J. Weatherall & J.B. Clegg. 2001. The Thalassaemia Syndromes. The Thalassaemia Syndromes 733 821 .
Swee Lay Thein. (1998) 3 β-Thalassaemia. Baillière's Clinical Haematology 11:1, pages 91-126.
Crossref
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.
Crossref
M. Kozak. (1996) Interpreting cDNA sequences: Some insights from studies on translation. Mammalian Genome 7:8, pages 563-574.
Crossref
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.
Crossref
Bernice R. ZysowGisela E. LindahlDavid P. WadeBrian L. KnightRichard M. Lawn. (1995) C/T Polymorphism in the 5′ Untranslated Region of the Apolipoprotein(a) Gene Introduces an Upstream ATG and Reduces In Vitro Translation. Arteriosclerosis, Thrombosis, and Vascular Biology 15:1, pages 58-64.
Crossref
Seiichi Tsujino, Laurence A. Rubin, Sara Shanske & Salvatore DiMauro. (1994) An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease). Human Mutation 4:1, pages 73-75.
Crossref
P. Beris, R. Darbellay, D. Speiser, V. Kirchner & P. A. Miescher. (2006) De novo initiation codon mutation (ATG→ACG) of the β‐globin gene causing β‐thalassemia in a swiss family. American Journal of Hematology 42:3, pages 248-253.
Crossref
J E SlighJrJr, M Y Hurwitz, C M Zhu, D C Anderson & A L Beaudet. (1992) An initiation codon mutation in CD18 in association with the moderate phenotype of leukocyte adhesion deficiency.. Journal of Biological Chemistry 267:2, pages 714-718.
Crossref
L. Saba, A. Meloni, R. Sardu, M. Travi, P. Primignani, M. C. Rosatelli & A. Cao. (1992) A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene. Human Mutation 1:5, pages 420-422.
Crossref
T. H. J. Huisman. (2008) FREQUENCIES OF COMMON β ‐THALASSAEMIA ALLELES AMONG DIFFERENT POPULATIONS: VARIABILITY IN CLINICAL SEVERITY . British Journal of Haematology 75:4, pages 454-457.
Crossref

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