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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Rare Diseases
Last data update: Apr 18, 2024
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Hereditary Spherocytosis[original query]>>Original Studies[Product Type]
Five Years' Experience with Gene Panel Sequencing in Hereditary Hemolytic Anemia Screened by Routine Peripheral Blood Smear Examination.
Namsu Kim et al. Diagnostics (Basel, Switzerland) 2023 13(4)
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Clinical Utility of Targeted Next-Generation Sequencing Panel in Routine Diagnosis of Hereditary Hemolytic Anemia: A national reference laboratory experience.
Archana M Agarwal et al. European journal of haematology 2023
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Effects of SPTA1 Gene Variants on the Hematological Phenotype of Mexican Patients with Hereditary Spherocytosis.
Herrera-Tirado Isis Mariela et al. Genetic testing and molecular biomarkers 2022 26(5) 270-276
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Influence of diabetes and hypercholesterolemia on laboratory methods for hereditary spherocytosis diagnosis.
Lazarova Elena et al. Journal of clinical laboratory analysis 2022 e24248
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Clinical utility of targeted gene enrichment and sequencing technique in the diagnosis of adult hereditary spherocytosis.
Xue Jun et al. Annals of translational medicine 2019 Oct 7(20) 527
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Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte.
Choi Hyoung Soo et al. Orphanet journal of rare diseases 2019 14(1) 114
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Clinical and laboratory outcomes following total or partial splenectomy in patients with hereditary spherocytosis.
Tripodi Serena I et al. Pediatric hematology and oncology 2019 Jul 1-8
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Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters.
Bobée Victor et al. International journal of laboratory hematology 2018 Sep
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Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.
Llaudet-Planas E et al. International journal of laboratory hematology 2018 Feb 40(1) 94-102
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Analysis of the causes of the misdiagnosis of hereditary spherocytosis.
Ma Shiyue et al. Oncology reports 2018 Jul
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Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo Roberta et al. American journal of hematology 2018 Feb
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Page last reviewed:
Feb 1, 2024
Page last updated:
Apr 18, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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