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Hossam Murad, Faten Moassas, Bashar Ali & Walid Alachkar. (2019) A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report. Cogent Medicine 6:1.
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Juan A. Orts, Ángel Zúñiga, Yanis Bello, Aleix B. Fabregat & Ana I. Vicente. (2016) Hb A1c Determination by Capillary Electrophoresis is an Efficient Method for Detecting β-Thalassemias and Hemoglobin Variants. Hemoglobin 40:5, pages 335-340.
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Sandra S. Lazarte, María E. Mónaco, Ana C. Haro, Cecilia L. Jiménez, Myriam E. Ledesma Achem & Blanca A. Issé. (2014) Molecular Characterization and Phenotypical Study of β-Thalassemia in Tucumán, Argentina. Hemoglobin 38:6, pages 394-401.
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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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Ihab Belmokhtar, Saida Lhousni, Mounia Elidrissi Errahhali, Ayad Ghanam, Manal Elidrissi Errahhali, Zaina Sidqi, Meryem Ouarzane, Majida Charif, Mohammed Bellaoui, Redouane Boulouiz & Noufissa Benajiba. (2022) Molecular heterogeneity of β‐thalassemia variants in the Eastern region of Morocco. Molecular Genetics & Genomic Medicine 10:8.
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Eduardo J. Bardón Cancho, Marina García-Morín, Cristina Beléndez, Pablo Velasco, David Benéitez, Anna Ruiz-Llobet, Rubén Berrueco, Bienvenida Argilés, Áurea Cervera, José Antonio Salinas, Cruz Vecilla, Ainhoa Gondra, Griselda Vallés, Thais Murciano, Mar Bermúdez & Elena Cela. (2020) Update of the Spanish registry of haemoglobinopathies in children and adults. Medicina Clínica (English Edition) 155:3, pages 95-103.
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Paloma Ropero, Sara Erquiaga, Beatriz Arrizabalaga, Germán Pérez, Silvia de la Iglesia, María José Torrejón, Celia Gil, Cela Elena, María Tenorio, Jorge M Nieto, Félix de la Fuente-Gonzalo, Ana Villegas, Fernando-Ataúlfo González Fernández & Rafael Martínez. (2017) Phenotype of mutations in the promoter region of the β-globin gene. Journal of Clinical Pathology 70:10, pages 874-878.
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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
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Elena Cela, José M. Bellón, María de la Cruz, Cristina Beléndez, Rubén Berrueco, Anna Ruiz, Izaskun Elorza, Cristina Díaz de Heredia, Aurea Cervera, Griselda Vallés, J. Antonio Salinas, M. Teresa Coll, Mar Bermúdez, Marta Prudencio, Bienvenida Argilés & Cruz Vecilla. (2017) National registry of hemoglobinopathies in Spain (REPHem). Pediatric Blood & Cancer 64:7, pages e26322.
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Susana Rives Solà. (2013) Enfermedad de células falciformes: papel del pediatra. Anales de Pediatría Continuada 11:3, pages 123-131.
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Antonino Giambona, Margherita Vinciguerra, Monica Cannata, Filippo Cassarà, Germana Fiorentino, Filippo Leto, Pina Lo Gioco, Disma Renda, Cristina Passarello & Aurelio Maggio. (2011) The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island. Blood Cells, Molecules, and Diseases 46:4, pages 282-287.
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Turker Bilgen, Yunus Arikan, Duran Canatan, Akif Yeşilipek & Ibrahim Keser. (2011) The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population. Blood Cells, Molecules, and Diseases 46:3, pages 226-229.
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