Last Posted: Dec 12, 2019
- 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
- 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
- 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
- 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
- Analysis of the causes of the misdiagnosis of hereditary spherocytosis.
Ma Shiyue et al. Oncology reports 2018 Jul
- Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.
Russo Roberta et al. American journal of hematology 2018 Feb
- ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders.
King M-J et al. Int J Lab Hematol 2015 Mar 18.
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.