Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene

Background: 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 transfusion-dependent anemia. Most pa...

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Bibliographic Details
Main Authors:	Cao, M. (Author), Huang, Z. (Author), Lin, J. (Author), Zhang, D. (Author), Zhou, H. (Author)
Format:	Article
Language:	English
Published:	John Wiley and Sons Inc 2021
Subjects:	actin aged Aged, 80 and over amino acid substitution anemia Article Asian Asians bone marrow examination carboxy terminal sequence case report chemistry Chinese clinical article Cytoskeletal Proteins cytoskeleton protein elliptocytosis Elliptocytosis, Hereditary EPB41 gene erythrocyte erythrocyte band 4.1 protein erythrocyte protein band 4.1 gene familial disease female Female gallstone gene mutation genetics hemolytic anemia hereditary elliptocytosis high throughput sequencing High-Throughput Nucleotide Sequencing human Humans jaundice male Male membrane protein Membrane Proteins Models, Molecular molecular model mutation Mutation pedigree Pedigree protein structure sequence alignment spectrin splenomegaly very elderly
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Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene

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