Thalassaemia

Dominant β-thalassaemia with unusually high Hb A₂ and Hb F caused by β^CD121(−G) (HBB:c.364delG) in exon 3 of β-globin gene
Kritsada Singha, Rossarin Karnpean, Goonnapa Fucharoen, Supan Fucharoen

Journal of Clinical Pathology Aug 2020, 73 (8) 511-513; DOI: 10.1136/jclinpath-2019-206308
Significance of variant annotation for molecular diagnosis of thalassaemia
Kok-Siong Poon, Evelyn Siew-Chuan Koay, Karen Mei-Ling Tan

Journal of Clinical Pathology Oct 2021, 74 (10) 676-677; DOI: 10.1136/jclinpath-2020-207045
Identification of a new β-thalassaemia variant Term CD+32(HBB: c.32A>C) in two Chinese families
Jianlong Zhuang, Yu Zheng, Yuanbai Wang, Qianmei Zhuang, Yuying Jiang, Qingyue Xie, Shuhong Zeng, Jianxing Zeng

Journal of Clinical Pathology Sep 2020, 73 (9) 593-596; DOI: 10.1136/jclinpath-2020-206426
Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China
Jianlong Zhuang, Yuying Jiang, Yuanbai Wang, Yu Zheng, Qianmei Zhuang, Junyu Wang, Shuhong Zeng

Journal of Clinical Pathology May 2020, 73 (5) 278-282; DOI: 10.1136/jclinpath-2019-206179
Capillary zone electrophoresis for haemoglobinopathy diagnosis
Nicole Borbely, Lorraine Phelan, Richard Szydlo, Barbara Bain

Journal of Clinical Pathology Jan 2013, 66 (1) 29-39; DOI: 10.1136/jclinpath-2012-200946
Sickle cell disease and thalassaemia antenatal screening programme in England over 10 years: a review from 2007/2008 to 2016/2017
Leonora G Weil, Matthew RM Charlton, Cathy Coppinger, Yvonne Daniel, Allison Streetly

Journal of Clinical Pathology Apr 2020, 73 (4) 183-190; DOI: 10.1136/jclinpath-2019-206317
Screening of (–^SEA) α-thalassaemia using an immunochromatographic strip assay for the ζ-globin chain in a population with a high prevalence and heterogeneity of haemoglobinopathies
Wittaya Jomoui, Goonnapa Fucharoen, Kanokwan Sanchaisuriya, Supan Fucharoen

Journal of Clinical Pathology Jan 2017, 70 (1) 63-68; DOI: 10.1136/jclinpath-2016-203765
Haemoglobinopathies that occur with decreased HbA₂ levels: a gene mutation set involving the δ gene at a Spanish centre
Ana Villegas, Fernando Ataúlfo González, Jorge M Nieto, Félix de la Fuente-Gonzalo, Rafael Martínez, María Josefa Torrejón, Paloma Ropero

Journal of Clinical Pathology Jan 2017, 70 (1) 75-80; DOI: 10.1136/jclinpath-2016-203879
Genetic basis of persistent red blood cell microcytosis in the Chinese unexplained by phenotypical testing
Chi-Chiu So, Ada K Liu, Mandy H Tsang, Donna Y Ngai, Kin-Sang Leung, Amy Y Chan

Journal of Clinical Pathology Jan 2015, 68 (1) 69-72; DOI: 10.1136/jclinpath-2014-202568
An assessment of methods used in the investigation of iron status: findings in a population of young British South Asian children
Roderick F Hinchliffe, Ajay J Vora, Lynne Lennard

Journal of Clinical Pathology Apr 2016, 69 (4) 345-351; DOI: 10.1136/jclinpath-2015-203301

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