Multi‐gene panel testing improves diagnosis and management of patients with hereditary anemias

Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond‐Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects,...

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Veröffentlicht in:	American journal of hematology 2018-05, Vol.93 (5), p.672-682
Hauptverfasser:	Russo, Roberta, Andolfo, Immacolata, Manna, Francesco, Gambale, Antonella, Marra, Roberta, Rosato, Barbara Eleni, Caforio, Paola, Pinto, Valeria, Pignataro, Piero, Radhakrishnan, Kottayam, Unal, Sule, Tomaiuolo, Giovanna, Forni, Gian Luca, Iolascon, Achille
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Anemia Anemia, Dyserythropoietic, Congenital - genetics Anemia, Hemolytic, Congenital - diagnosis Anemia, Hemolytic, Congenital - genetics Anemia, Hemolytic, Congenital - therapy Cad gene Child Child, Preschool Defects Diagnosis Diagnostic Errors Disease Management Encephalopathy Epilepsy Female Genes Genetic Association Studies Genetic Testing - methods Genetic Variation Genotypes Hematology Hemolytic anemia Hereditary spherocytosis High-Throughput Nucleotide Sequencing Humans Infant Male Mutation Patients Phenotypes Spherocytosis Young Adult
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