haemoglobinopathies

Ultra-rare Hb Regina (HBB:c.289C>G) with coinherited β-thalassaemia trait: solving the puzzle for extreme erythrocytosis
Nabhajit Mallik, Manu Jamwal, Ritika Sharma, Namrata Singh, Prashant Sharma, Deepak Bansal, Amita Trehan, Sanjeev Chhabra, Reena Das

Journal of Clinical Pathology Jan 2022, jclinpath-2021-208013; DOI: 10.1136/jclinpath-2021-208013
Why is the novel Hb Miguel Servet visualised by CE-HPLC newborn and not by the CE-HPLC β-thalassaemia programme?
Valle Recasens, Ángeles Montañés, Carmen Rodríguez-Vigil, Yolanda González, Guillermo Hernández de Abajo, Jorge M Nieto, Beatriz González Fernández, Fernando-Ataúlfo González-Fernández, Ana Villegas, Celina Benavente, Paloma Ropero

Journal of Clinical Pathology Mar 2021, 74 (3) 198-201; DOI: 10.1136/jclinpath-2020-206812
Phenotypic evaluations of HBB:c.93-23T>C, a nucleotide substitution in the IVS I nt 108 of β-globin gene
Margherita Vinciguerra, Filippo Cassarà, Monica Cannata, Disma Renda, Giuseppina Calvaruso, Filippo Leto, Cristina Passarello, Aurelio Maggio, Antonino Giambona

Journal of Clinical Pathology Apr 2018, 71 (4) 298-302; DOI: 10.1136/jclinpath-2017-204651

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