Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23781
Abstract: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe… read more here.
Keywords: clinical molecular; hereditary elliptocytosis; elliptocytosis; molecular genetic ... See more keywords
A large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000032708
Abstract: Rationale: Hereditary spherocytosis (HS) has a defect in the vertically connected proteins on the cell membrane of red blood cells (RBC). Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally.… read more here.
Keywords: mutation; hereditary elliptocytosis; case; hereditary spherocytosis ... See more keywords