Last Posted: Sep 17, 2020
- Newborn Screening Practices and Alpha-Thalassemia Detection - United States, 2016.
Bender M A et al. MMWR. Morbidity and mortality weekly report 2020 Sep 69(36) 1269-1272
- Genetic testing costs and compliance with clinical best practices.
Montanez Kathleen et al. Journal of genetic counseling 2020 May
- Sickle cell screening in Uganda: High burden, human immunodeficiency virus comorbidity, and genetic modifiers.
Kiyaga Charles et al. Pediatric blood & cancer 2019 May e27807
- Genetic, laboratory and clinical risk factors in the development of overt ischemic stroke in children with sickle cell disease.
Belisário André Rolim et al. Hematology, transfusion and cell therapy 40(2) 166-181
- Clinical experience with multigene carrier panels in the reproductive setting.
Terhaar Catherine et al. Prenatal diagnosis 2018 Apr
- Variability in State-Based Recommendations for Management of Alpha Thalassemia Trait and Silent Carrier Detected on the Newborn Screen.
Fogel Benjamin N et al. The Journal of pediatrics 2017 Dec
- A Pilot Study of Noninvasive Prenatal Diagnosis of Alpha- and Beta-Thalassemia with Target Capture Sequencing of Cell-Free Fetal DNA in Maternal Blood.
Wang Wenjuan et al. Genetic testing and molecular biomarkers 2017 Jul 21(7) 433-439
- A systematic review of the literature for severity predictors in children with sickle cell anemia.
Meier Emily Riehm et al. Blood cells, molecules & diseases 2017 Feb
- Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study.
Carlos Aline Menezes et al. Sa~o Paulo medical journal = Revista paulista de medicina 133(5) 439-44
- Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.
Upadhye Dipti S et al. PloS one 11(1) e0147081
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.