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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 1
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Original Article

The Spectrum of β-Thalassemia Mutations in a Population from the Brazilian Amazon

Aylla N. L. M. SilvaLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Guamá, Belém, PA, Brasil
,
Greice L. CardosoLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Guamá, Belém, PA, Brasil
,
Daniele A. CunhaLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Guamá, Belém, PA, Brasil
,
Isabela G. DinizLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Guamá, Belém, PA, Brasil
,
Sidney E.B. SantosLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Guamá, Belém, PA, Brasil
,
Gabriela B. AndradeLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Guamá, Belém, PA, Brasil
,
Saide M.S. TrindadeFundação Centro de Hemoterapia e Hematologia do Pará, Travessa Padre Eutíquio, Belém, PA, Brasil
,
Maria do Socorro O. CardosoFundação Centro de Hemoterapia e Hematologia do Pará, Travessa Padre Eutíquio, Belém, PA, Brasil
,
Larissa T.V.M. FrancêsFundação Centro de Hemoterapia e Hematologia do Pará, Travessa Padre Eutíquio, Belém, PA, Brasil
&
João F. GuerreiroLaboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Guamá, Belém, PA, BrasilCorrespondence[email protected]
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Pages 20-24 | Received 19 Feb 2015, Accepted 30 Jul 2015, Published online: 15 Sep 2015

Citations (8)

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Prapaporn Panichchob, Pooncharus Iamdeelert, Putita Wongsariya, Pitchaya Wongsariya, Pinnaree Wongwattanasanti, Wanicha Tepakhan & Wittaya Jomoui. (2021) Molecular Spectrum of β-Thalassemia Mutations in Central to Eastern Thailand. Hemoglobin 45:2, pages 97-102.
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Gisele C.S. Carrocini, Larissa P.R. Venancio, Viviani L.R. Pessoa, Clarisse L.C. Lobo & Claudia R. Bonini-Domingos. (2017) Mutational Profile of Homozygous β-Thalassemia in Rio de Janeiro, Brazil. Hemoglobin 41:1, pages 12-15.
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Articles from other publishers (6)

Ekta Rao, Sandip Kumar Chandraker, Mable Misha Singh & Ravindra Kumar. (2024) Global distribution of β-thalassemia mutations: An update. Gene 896, pages 148022.
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Marcos Borato Viana, Érica Louback Oliveira & André Rolim Belisário. (2024) Severe clinical picture in a cohort of six Brazilian children with hemoglobin Sβ-thalassemia IVS-I-5 G>A. Blood Cells, Molecules, and Diseases 104, pages 102795.
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Jianlong Zhuang, Qi Luo, Shuhong Zeng, Yu’e Chen, Shuxia Lin, Yuanbai Wang & Yuying Jiang. (2022) A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant. Indian Journal of Hematology and Blood Transfusion 39:1, pages 102-106.
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Wanicha Tepakhan & Wittaya Jomoui. (2021) Rapid molecular diagnostics of large deletional β0-thalassemia (3.5 kb and 45 kb) using colorimetric LAMP in various thalassemia genotypes. Heliyon 7:11, pages e08372.
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Madeline H. Kowalski, Huijun Qian, Ziyi Hou, Jonathan D. Rosen, Amanda L. Tapia, Yue Shan, Deepti Jain, Maria Argos, Donna K. Arnett, Christy Avery, Kathleen C. Barnes, Lewis C. Becker, Stephanie A. Bien, Joshua C. Bis, John Blangero, Eric Boerwinkle, Donald W. Bowden, Steve Buyske, Jianwen Cai, Michael H. Cho, Seung Hoan Choi, Hélène Choquet, L. Adrienne Cupples, Mary Cushman, Michelle Daya, Paul S. de Vries, Patrick T. Ellinor, Nauder Faraday, Myriam Fornage, Stacey Gabriel, Santhi K. Ganesh, Misa Graff, Namrata Gupta, Jiang He, Susan R. Heckbert, Bertha Hidalgo, Chani J. Hodonsky, Marguerite R. Irvin, Andrew D. Johnson, Eric Jorgenson, Robert Kaplan, Sharon L. R. Kardia, Tanika N. Kelly, Charles Kooperberg, Jessica A. Lasky-Su, Ruth J. F. Loos, Steven A. Lubitz, Rasika A. Mathias, Caitlin P. McHugh, Courtney Montgomery, Jee-Young Moon, Alanna C. Morrison, Nicholette D. Palmer, Nathan Pankratz, George J. Papanicolaou, Juan M. Peralta, Patricia A. Peyser, Stephen S. Rich, Jerome I. Rotter, Edwin K. Silverman, Jennifer A. Smith, Nicholas L. Smith, Kent D. Taylor, Timothy A. Thornton, Hemant K. Tiwari, Russell P. Tracy, Tao Wang, Scott T. Weiss, Lu-Chen Weng, Kerri L. Wiggins, James G. Wilson, Lisa R. Yanek, Sebastian Zöllner, Kari E. North, Paul L. Auer, Laura M. Raffield, Alexander P. Reiner & Yun Li. (2019) Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations. PLOS Genetics 15:12, pages e1008500.
Crossref
L. C. Rizo‐de‐la‐Torre, B. Ibarra, J. Y. Sánchez‐López, M. T. Magaña‐Torres, V. M. Rentería‐López & F. J. Perea‐Díaz. (2017) Three novel HBB mutations, c.‐140C>G (‐90 C>G), c.237_256del GGACAACCTCAAGGGCACCT ( FS Cd 78/85 ‐20 bp), and c.315+2T>G ( IVS 2:2 T>G). Update of the mutational spectrum of β‐Thalassemia in Mexican mestizo patients . International Journal of Laboratory Hematology 39:5, pages 539-545.
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