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
Acquired elliptocytosis in a patient with a myelodysplastic syndrome associated with 20q deletion
Sign Up to like & getrecommendations! Published in 2019 at "British Journal of Haematology"
DOI: 10.1111/bjh.15746
Abstract: A 61-year-old man with a one-month history of progressive mild pancytopenia was referred to the haematology outpatient clinic. He had undergone prior laboratory investigation for this cytopenia without a clear diagnosis. A full blood count… read more here.
Keywords: bone marrow; myelodysplastic syndrome; elliptocytosis; 20q deletion ... See more keywords