Characterization of hereditary red blood cell membranopathies using combined targeted next-generation sequencing and osmotic gradient ektacytometry.

Vives-Corrons, Joan-Lluis; Krishnevskaya, Elena; Rodriguez, Ines Hernandez; Ancochea, Agueda

Vives-Corrons, Joan-Lluis; Krishnevskaya, Elena; Rodriguez, Ines Hernandez; Ancochea, Agueda.

Affiliation

Vives-Corrons JL; Red Blood Cells and Haematopoietic Disorders (Rare Anaemias Unit), Josep Carreras Institute for Leukaemia Research (IJC), Badalona (Barcelona), Spain. jlvives@clinic.cat.
Krishnevskaya E; Medicine Department, University of Barcelona, Catalonia, Spain. jlvives@clinic.cat.
Rodriguez IH; Red Blood Cells and Haematopoietic Disorders (Rare Anaemias Unit), Josep Carreras Institute for Leukaemia Research (IJC), Badalona (Barcelona), Spain.
Ancochea A; Haematology Department, Hospital Universitari Germans Trias i Pujol-ICO. Autonomous University of Barcelona, Badalona (Barcelona), Spain.

Int J Hematol ; 113(2): 163-174, 2021 Feb.

Article in En | MEDLINE | ID: mdl-33074480

Subject(s)

Anemia, Hemolytic, Congenital/diagnosis; Anemia, Hemolytic, Congenital/etiology; Erythrocyte Deformability/genetics; Erythrocyte Membrane/genetics; Erythrocyte Membrane/metabolism; High-Throughput Nucleotide Sequencing; Osmotic Fragility/genetics; Adolescent; Adult; Aged; Alleles; Anemia, Hemolytic, Congenital/blood; Biomarkers; Child; Erythrocyte Membrane/pathology; Erythrocytes, Abnormal/pathology; Female; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Male; Middle Aged; Mutation; Osmotic Pressure; Spherocytosis, Hereditary/blood; Spherocytosis, Hereditary/diagnosis; Spherocytosis, Hereditary/genetics; Spherocytosis, Hereditary/metabolism; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osmotic Fragility / Erythrocyte Deformability / Erythrocyte Membrane / High-Throughput Nucleotide Sequencing / Anemia, Hemolytic, Congenital Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged Language: En Journal: Int J Hematol Year: 2021 Document type: Article

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