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Hemoglobin
international journal for hemoglobin research
Volume 21, 1997 - Issue 2
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Original Article

β-Thalassemia Mutations in Japanese and Koreans

Y. Ohba Department of Clinical Laboratory Science, Yamaguchi University School of Medicine 1144, Kogushi, Ube, 755, Japan
,
Y. Hattori Department of Clinical Laboratory Science, Yamaguchi University School of Medicine 1144, Kogushi, Ube, 755, Japan
,
T. Harano Department of Biochemistry, Kawasaki Medical School, Welfare 577, Matsushima, Kurashiki, 701-01, Japan; Department of Clinical Nutrition, Kawasaki University of Medical, Welfare 577, Matsushima, Kurashiki, 701-01, Japan
,
K. Harano Department of Biochemistry, Kawasaki Medical School, Welfare 577, Matsushima, Kurashiki, 701-01, Japan; Department of Clinical Nutrition, Kawasaki University of Medical, Welfare 577, Matsushima, Kurashiki, 701-01, Japan
,
Y. Fukumaki Institution of Genetic Information, Kyusyu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka, 812-82, Japan
&
H. Ldeguchi Department of Clinical Chemistry and Laboratory Medicine, School of Medicine, Fukuoka University, 7-45-1 Nanakuma, Jonan-ku, Fukuoka, 814-01, Japan
Pages 191-200 | Received 19 Aug 1996, Accepted 27 Nov 1996, Published online: 07 Jul 2009

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Nafis Muhimmatul ‘Ulya, Vera Nurohmah Indrawati, Woro Triaksiwi Wulansari, Indra Lesmana & Niken Satuti Nur Handayani. (2023) Mutation Spectrum of β-Globin Gene in Patients with β-Thalassemia at Tidar Hospital, Magelang, Central Java, Indonesia. Hemoglobin 47:4, pages 152-156.
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Samaneh Farashi, Fariba Rad, Bahram Shahmohammadi, Hashem Imanian, Azita Azarkeivan & Hossein Najmabadi. (2016) First Report of a Dominantly Inherited β-Thalassemia Caused by a Novel Elongated β-Globin Chain. Hemoglobin 40:2, pages 102-107.
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Xia Yu, Li-Ye Yang, Hui-Tian Yang, Cheng-Gui Liu, Deng-Cheng Cao, Wei Shen, Hui Yang, Xiao-Fen Zhan, Jian Li, Bing-Rong Xue & Min Lin. (2015) Molecular Epidemiological Investigation of Thalassemia in the Chengdu Region, Sichuan Province, Southwest China. Hemoglobin 39:6, pages 393-397.
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Lantip Rujito, Muhammad Basalamah, Sri Mulatsih & Abdul Salam M. Sofro. (2015) Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program. Hemoglobin 39:5, pages 330-333.
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John S. Waye, Barry Eng, Laurie Hellens, Betty-Ann Hohenadel, Lisa M. Nakamura & Lynda Walker. (2013) Mild β+-Thalassemia Associated With Two Linked Sequence Variants: IVS-II-839 (T>C) and IVS-II-844 (C>A). Hemoglobin 37:4, pages 378-386.
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James D. Hoyer, Prabhjot Kaur, Elizabeth A. Kozak, Sophia Lum & David N. Alter. (2008) Five Variants of the β-Globin Gene without Clinical or Hematological Effects: Hb Maryland [β47(CD6)Asp→His], Hb Kent [β37(C3)Trp→Cys], Hb Visayan [β136(H14)Gly→Cys], Hb Cutlerville [β138(H16)Ala→Val] and Hb Hornchurch [β43(CD2)Glu→Lys]. Hemoglobin 32:5, pages 471-477.
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In-sang Jeon & Ki Lyong Nam. (2007) Ringed Sideroblasts Found in a Girl Heterozygous for the Initiation Codon (ATG→AGG) β0-Thalassemia Mutation. Hemoglobin 31:3, pages 383-386.
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Piero C. Giordano, Akosua Addo-Daaku, Margaretha J. Sander, Irene van Rooijen-Nijdam, Peter van Delft, Cornelis L. Harteveld & Peter J.M.J. Kok. (2007) The Rare Hb Showa-Yakushiji [β110(G12)Leu→Pro, CTG→CCG] in Combination with an α Gene Triplication Found in a Dutch Patient During Her First Pregnancy Examination. Hemoglobin 31:2, pages 167-171.
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Philippe Lacan, Martine Aubry, Nicole Couprie & Alain Francina. (2007) Two New β0-Thalassemic Mutations: A Deletion (−CC) at Codon 142 or Overlapping Codons 142-143, and an Insertion (+T) at Codon 45 or Overlapping Codons 44-45/45-46 of the β-Globin Gene. Hemoglobin 31:2, pages 159-165.
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Claude Préhu, Serge Pissard, Maha Al-Sheikh, Catherine Le Niger, Dora Bachir, Fréderic Galactéros & Henri Wajcman. (2005) Two French Caucasian Families with Dominant Thalassemia-Like Phenotypes Due to Hyper Unstable Hemoglobin Variants: Hb Sainte Seve [Codon 118 (− T)] and Codon 127 [CAG→TAG (Gln→Stop]). Hemoglobin 29:3, pages 229-233.
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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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Ramachran V. Shaji, Alok Srivastava, Rajagopal Krishnamoorthy & Mammen Chandy. (2002) COEXISTENCE OF A NOVEL β-GLOBIN GENE DELETION (CODONS 81–87) WITH THE CODON 30 (G→C) MUTATION IN AN INDIAN PATIENT WITH β0-THALASSEMIA. Hemoglobin 26:3, pages 237-243.
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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. 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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Y. Hattori, N. Okayama, Y. Ohba, Y. Yamashiro, Ku. Yamamoto, Ki. Yamamoto, S. Koyama & U. Sawada. (1998) A New β-Thalassemia Allele, Codon 26 (GAGGTAG), Found in a Japanese. Hemoglobin 22:1, pages 79-82.
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Taiju Utsugisawa & Hitoshi Kanno. (2022) Hemoglobinopathiesヘモグロビン異常症. Japanese Journal of Transfusion and Cell Therapy 68:1, pages 3-11.
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Riham H.N. AlMosawi, Nihad A.M. Al-Rashedi & Najla I. Ayoub. (2020) Clinical Laboratory Manifestation and Molecular Diagnosis of β-Thalassemia Patients in Iraq. Journal of Pediatric Hematology/Oncology 42:1, pages 27-31.
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J. F. Borgio, S. AbdulAzeez, Z. A. Naserullah, S. Al‐Jarrash, R. A. Al‐Ali, M. S. Al‐Madan, F. Al‐Muhanna, A. M. Al‐Suliman, A. Al‐Nafie, M. H. Steinberg & A. K. Al‐Ali. (2016) Mutations in the β‐globin gene from a Saudi population: an update. International Journal of Laboratory Hematology 38:2.
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Ajit GorakshakarPriyanka SatheRoshan ColahAnita NadkarniKanjaksha Ghosh. (2012) Hemoglobin Showa-Yakushiji: A Common β Thalassemia Mutation Among the Agri Community from Western India. Genetic Testing and Molecular Biomarkers 16:4, pages 302-305.
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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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Gen Kano, Akira Morimoto, Shigeyoshi Hibi, Chika Tokuda, Shinjiro Todo, Tohru Sugimoto, Teruo Harano, Ayako Miyazaki, Akira Shimizu & Shinsaku Imashuku. (2004) Hb Bristol-Alesha Presenting Thalassemia-Type Hyperunstable Hemoglobinopathy. International Journal of Hematology 80:5, pages 410-415.
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Miho Maeda, Yoshitaka Fukunaga, Kiyohiko Kaizu, Keiko Harano & Teruo Harano. (2004) Two Children with Thalassemia Identified During Screening for Anemia in Junior High School. Journal of Nippon Medical School 71:4, pages 297-300.
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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 .
Swee Lay Thein. (1998) 3 β-Thalassaemia. Baillière's Clinical Haematology 11:1, pages 91-126.
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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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