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Hemoglobin
international journal for hemoglobin research
Volume 16, 1992 - Issue 4
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Original Article

Two β-Thalassemia Mutations in Japan: Codon 121 (Gaa→Taa) and IVS-I-130 (G→C)

Ku. Yamamoto Department of Allied Health Sciences, Yamaguchi University, 1144 Kogushi, Ube, 755, Japan
,
Ki. Yamamoto Department of Allied Health Sciences, Yamaguchi University, 1144 Kogushi, Ube, 755, Japan
,
Y. Hattori Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, 1144 Kogushi, Ube, 755, Japan
,
Y. Yamashiro Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, 1144 Kogushi, Ube, 755, Japan
,
M. Hoshitani Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, 1144 Kogushi, Ube, 755, Japan
,
M. Morishita Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, 1144 Kogushi, Ube, 755, Japan
,
Y. Ohba Department of Clinical Laboratory Science, Yamaguchi University School of Medicine, 1144 Kogushi, Ube, 755, Japan
,
H. Katahira Third Department of Internal Medicine, Gunma University School of Medicine, 3-39-22 Showa-Machi, Maebashi, 371, Japan
,
M. Karasawa Third Department of Internal Medicine, Gunma University School of Medicine, 3-39-22 Showa-Machi, Maebashi, 371, Japan
,
M. Omine Third Department of Internal Medicine, Gunma University School of Medicine, 3-39-22 Showa-Machi, Maebashi, 371, Japan
,
T. Narukiyo Third Department of Internal Medicine, Gunma University School of Medicine, 3-39-22 Showa-Machi, Maebashi, 371, Japan
,
K. Hirabayashi Saiseikai Maebashi Hospital, 564-1 Kamishinden-Machi, Maebashi, 371, Japan
&
S. Miyawaki Saiseikai Maebashi Hospital, 564-1 Kamishinden-Machi, Maebashi, 371, Japan
 show all
Pages 295-302 | Accepted 15 Apr 1991, Published online: 07 Jul 2009

Citations (26)

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Qiang Zhao, Su-Min Zhao, Xue Zhang, Shi-Ping Chen, Jun Sun, Zhi-Yu Peng, Yan Sun, Chuang Fan, Xiao-Dan Xing & Rong Li. (2021) Detection of the HBB: c.393T>G Mutation in Two Patients with Hypochromic Microcytic Anemia. Hemoglobin 45:3, pages 150-153.
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Martina Divoka, Martina Partschova, Jana Kucerova, Renata Mojzikova, Jaroslav Cermak, Dagmar Pospisilova, Viera Fabryova, Daniela Prochazkova, Karel Indrak & Vladimir Divoky. (2016) Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations. Hemoglobin 40:3, pages 156-162.
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Chingiz D. Asadov, Eldar R. Abdulalimov, Tahira A. Mammadova, Surmaya N. Qafarova, Yegana J. Guliyeva, Abdullah Tuli & M. Akif Çürük. (2013) Identification of Two Rare β-Globin Gene Mutations in a Patient with β-Thalassemia Intermedia from Azerbaijan. Hemoglobin 37:3, pages 291-296.
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Gargi Bhattacharya, Anjali A. Sarkar, Debasish Banerjee, Sarmila Chandra, Manikanchan Das & Uma B. Dasgupta. (2008) Polymerase Chain Reaction-Based Search for Two α-Globin Gene Mutations in India. Hemoglobin 32:5, pages 485-490.
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Ajit C. Gorakshakar, Supriya P. Phanasgaonkar, Anita H. Nadkarni, Roshan B. Colah & Dipika Mohanty. (2004) Detection of Rare β‐Thalassemia Mutations by Denaturing Gradient Gel Electrophoresis Among Indians. Hemoglobin 28:1, pages 15-24.
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Sung Sup Park, Young Joon Lee, Ji Yeon Kim, Sae Ick Joo, Yukio Hattori, Yuzo Ohba & Han-Ik Cho. (2002) β-THALASSEMIA IN THE KOREAN POPULATION. Hemoglobin 26:2, pages 135-145.
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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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J. Traeger-Synodinos, E. Maragoudaki, C. Vrettou, E. Kanavakis & C. Kattamis. (1998) Rare β-Thalassemia Alleles In the Greek and Greek Cypriot Populations. Hemoglobin 22:1, pages 89-94.
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Y. Ohba, Y. Hattori, T. Harano, K. Harano, Y. Fukumaki & H. Ldeguchi. (1997) β-Thalassemia Mutations in Japanese and Koreans. Hemoglobin 21:2, pages 191-200.
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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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T. H. J. Huisman. (1993) The β- and δ-Thalassemia Repository (Seventh Edition). Hemoglobin 17:5, pages 479-499.
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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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Articles from other publishers (14)

Sheng He, Qian Qin, Shang Yi, Yuan Wei, Li Lin, Shaoke Chen, Jianping Deng, Xianmin Xu, Chenguang Zheng & Biyan Chen. (2017) Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China. Gene 619, pages 71-75.
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S. AGARWAL, P. M. TAMHANKAR, R. KUMAR & A. DALAL. (2010) Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93‐2A > C) case of thalassaemia major. International Journal of Laboratory Hematology 32:3, pages 369-372.
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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.
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Sung Sup Park & Han-Ik Cho. (2002) β-Thalassemia in the Korean population. International Journal of Hematology 76:S2, pages 93-95.
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D.J. Weatherall & J.B. Clegg. 2001. The Thalassaemia Syndromes. The Thalassaemia Syndromes 733 821 .
G.O. Tadmouri, O. Bileno?lu, S. Kantarc?H. Kayserili, P. Perrin & A.N. Ba?ak. (2000) A rare mutation [IVS-I-130 (G-A)] in a Turkish ?-thalassemia major patient. American Journal of Hematology 63:4, pages 223-225.
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Antonio Cao & Paolo Moi. (2000) Genetic Modifying Factors in β-Thalassemia. cclm 38:2, pages 123-132.
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A.C. Gorakshakar, A.R. Pawar, A.H. Nadkarni, C.Y. Lu, D. Mohanty, R. Krishnamoorthy, C. Besmond & R.B. Colah. (1999) Potential of denaturing gradient gel electrophoresis for scanning of ?-thalassemia mutations in India. American Journal of Hematology 61:2, pages 120-125.
Crossref
Jonathan Flint, Rosalind M. Harding, Anthony J. Boyce & John B. Clegg. (1998) 1 The population genetics of the haemoglobinopathies. Baillière's Clinical Haematology 11:1, pages 1-51.
Crossref
M. A.çürük, T. P. Molchanova, Yu. V. Postnikov, D. D. Pobedimskaya, R. Liang, E. Baysal, S. Kolodey, N. S. Smetanina, Yu. N. Tokarev, A. G. Rumyantsev & T. H. J. Huisman. (1994) β-thalassemia alleles and unstable hemoglobin types among russian pediatric patients. American Journal of Hematology 46:4, pages 329-332.
Crossref
V. Divoky, L‐H. Gu, K. Indrak, K. Mocikova, M. Zarnovicanova & T. H. J. Huisman. (2008) A NEW β°‐THALASSAEMIA NONSENSE MUTATION (CODON 112, T→A) NOT ASSOCIATED WITH A DOMINANT TYPE OF THALASSAEMIA IN THE HETEROZYGOTE. British Journal of Haematology 83:3, pages 523-524.
Crossref
Jonathan Flint, Rosalind M. Harding, Anthony J. Boyce & John B. Clegg. (1993) 8 The population genetics of the haemoglobinopathies. Baillière's Clinical Haematology 6:1, pages 215-262.
Crossref
G. W. Hall, R. A. Barnetson & S. L. Thein. (2008) Beta thalassaemia in the indigenous British population. British Journal of Haematology 82:3, pages 584-588.
Crossref
Karel Indrak, Vaclav Brabec, Jarmila Indrakova, Ladislav Chrobak, Adriana Sakalova, Marie Jarosova, Jaroslav Cermak, You-jun Fei, Ferdane Kutlar, Yuan-chao Gu, Erol Baysal & Titus H. J. Huisman. (1992) Molecular characterization of β-thalassemia in Czechoslovakia. Human Genetics 88:4, pages 399-404.
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