Hemoglobin

international journal for hemoglobin research

Volume 36, 2012 - Issue 2

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Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male with a Heterozygous β-Thalassemia Phenotype

Minako HinoYamaguchi University Graduate School of Medicine, Faculty of Health Sciences, Ube, Japan;UAE Genetic Diseases Association, Dubai, United Arab EmiratesCorrespondence[email protected]

Yasuhiro YamashiroYamaguchi University Graduate School of Medicine, Faculty of Health Sciences, Ube, Japan

Yukio HattoriYamaguchi University Graduate School of Medicine, Faculty of Health Sciences, Ube, Japan

Hitomi ItoYamaguchi University Graduate School of Medicine, Faculty of Health Sciences, Ube, Japan

Takenori NittaYamaguchi University Graduate School of Medicine, Faculty of Health Sciences, Ube, Japan

Chris AdhiyantoYamaguchi University Graduate School of Medicine, Faculty of Health Sciences, Ube, Japan

Maryam MatarUAE Genetic Diseases Association, Dubai, United Arab Emirates

Mohammed NaveedUAE Genetic Diseases Association, Dubai, United Arab Emirates

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Citations (8)

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Read on this site (4)

Fan Jiang, Gui-Lan Chen, Jian Li, Xue-Wei Tang & Dong-Zhi Li. (2022) β-Thalassemia Intermedia Caused by the β-Globin Gene 3′ Untranslated Region: Another Case Report. Hemoglobin 46:2, pages 137-139.
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Aditi Sen, Venu Seenappa, Prantar Chakrabarti & Tuphan Kanti Dolai. (2021) First Report of the 3'-Untranslated Region +1506 (A>C) [NM_000518.5: c.*32A>C] mutation on the β-Globin Gene in the Indian Population. Hemoglobin 45:5, pages 325-328.
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Maria Ascensión Herrera, Félix De La Fuente-Gonzalo, Fernando Ataúlfo González, Jorge M. Nieto, Alejandra Blum Dominguez, Ana Villegas & Paloma Ropero. (2015) Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region (HBB: c.*+118A > G) in Spain. Hemoglobin 39:1, pages 30-35.
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Minako Hino, Hitomi Ito, Yasuhiro Yamashiro, Yukio Hattori, Takenori Nitta & Chris Adhiyanto. (2012) The +1,506 (A>C) Mutation in the 3′ Untranslated Region Affects β-Globin Expression. Hemoglobin 36:4, pages 399-406.
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Articles from other publishers (4)

Kok-Siong Poon, Evelyn Siew-Chuan Koay & Karen Mei-Ling Tan. (2021) Significance of variant annotation for molecular diagnosis of thalassaemia. Journal of Clinical Pathology 74:10, pages 676-677.
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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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Andrea Medrano Behlmann, Namita A. Goyal, Xiaoyu Yang, Ping H. Chen & Arunkanth Ankala. 2019. JIMD Reports, Volume 45. JIMD Reports, Volume 45 105 110 .

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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Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male with a Heterozygous β-Thalassemia Phenotype

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Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male with a Heterozygous β-Thalassemia Phenotype

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