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Detection of Hb H disease caused by a novel mutation and ‐‐(SEA) deletion using capillary electrophoresis

BACKGROUND: Hb H disease is a serious type of α‐thalassemia which cause moderate anemia while misdiagnosis by routine genetic analysis in a rare or novel Hb H disease. METHODS: The study was done on three patients and one fetus in a suspected Hb H disease family. Hb analysis was carried out using ca...

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Detalles Bibliográficos
Autores principales: Li, Youqiong, Liang, Liang, Tian, Mao, Qin, Ting, Wu, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757179/
https://www.ncbi.nlm.nih.gov/pubmed/31199523
http://dx.doi.org/10.1002/jcla.22949