hemoglobinopathies

Diagnosis and clinical relevance of co-inheritance of haemoglobin D-Punjab/β+-thalassemia traits in an immigrant Afghan family
Ralph Huits, Anne-Marie Feyens, Niels Lonneville, Xavier Peyrassol, Anne-Sophie Adam, Beatrice Gulbis, Marjan Van Esbroeck

Journal of Clinical Pathology Jan 2022, jclinpath-2021-208009; DOI: 10.1136/jclinpath-2021-208009
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
De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG; HBA1:c.193G>A) variant in a sickle cell disease patient of an Indian tribe
Ravindra Kumar, Sweta Mishra, Ram Swaroop Uikey, Anil Gwal, Amol Mun, Praveen K Bharti, Rajasubramaniam Shanmugam

Journal of Clinical Pathology May 2021, 74 (5) 336-338; DOI: 10.1136/jclinpath-2020-206589
Hb Palencia: a novel δβδ-type two-way fusion variant with β-globin-like expression levels
Jorge M Nieto, Fernando Ataúlfo González, José María Alonso, Eva Golvano, Lucia Guerrero, Beatriz Albarrán, Ana villegas, Rafael B Martínez, Paloma Ropero

Journal of Clinical Pathology Jan 2019, 72 (1) 46-51; DOI: 10.1136/jclinpath-2018-205282

Main menu