SICKLE CELL DISEASE UPDATE June 23-30, 2016 ▲ Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)



June 23-30, 2016

SICKLE CELL DISEASE

Last Updated: Jun 23, 2016

• Developing a Unified Approach for Sickle Cell Disease
  Am J Prev Pemd, July 2016
• Newborn Screening Programs and Sickle Cell Disease: A Public Health Services and Systems Approach.
  Minkovitz Cynthia S et al. American journal of preventive medicine 2016 Jul 51(1 Suppl 1) S39-47
• Sickle Cell Disease: A Continued Call to Action
  AJPM supplement, July 2016
• Sickle-cell disease: managing comorbidities
  Lancet, June 2016
• Newborn Screening Programs and Sickle Cell Disease: A Public Health Services and Systems Approach
  CS Minkovitz et al, AJPM supplement, July 2016
• Intracranial Aneurysms in Sickle-Cell Disease Are Associated With the Hemoglobin SS Genotype But Not With Moyamoya Syndrome.
  Birkeland Peter, et al. Stroke; a journal of cerebral circulation 2016 6
• Time to Invest in Sickle Cell Anemia as a Global Health Priority.
  McGann Patrick T et al. Pediatrics 2016 Jun (6)
• Use of genome-editing tools to treat sickle cell disease.
  Tasan Ipek et al. Human genetics 2016 Jun
• Influence of ?S-Globin Haplotypes and Hydroxyurea on Arginase I Levels in Sickle Cell Disease.
  Moreira J A, et al. Disease markers 2016 0 9172726
• Genetic modulators of sickle cell disease in French Guiana: Markers of the slave trade.
  Christine Simonnet, et al. American journal of human biology : the official journal of the Human Biology Council 2016 6
• Clinically relevant RHD-CE genotypes in patients with sickle cell disease and in African Brazilian donors.
  Gaspardi Ane C, et al. Blood transfusion = Trasfusione del sangue 2016 4 1-6
• The Impact of XmnI-HBG2, BCL11A and HBS1L-MYB Single Nucleotide Polymorphisms on Hb F Variation of Hematologically Normal Iranian Individuals.
  Keyhani Elaheh, et al. Hemoglobin 2016 6 (3) 198-201
• Effect of Hereditary Hemochromatosis Gene (HFE) H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients.
  Terzi Yunus Kas?m, et al. Turkish journal of haematology : official journal of Turkish Society of Haematology 2016 4
• Sickle Cell Disease in Central India: A Potentially Severe Syndrome.
  Jain Dipty, et al. Indian journal of pediatrics 2016 4
• Key Findings: Sickle Cell Disease in California and Georgia: New Death Rate Estimates 
• Impact of Mannose-Binding Protein Gene Polymorphisms in Omani Sickle Cell Disease Patients.
  Zachariah Mathew, et al. Mediterranean journal of hematology and infectious diseases 2016 0 (1) e2016013
• Cross-Sectional Analysis of Neurocognitive Function, Retinopathy, and Retinal Thinning by Spectral-Domain Optical Coherence Tomography in Sickle Cell Patients.
  Oltra Erica Z, et al. Middle East African journal of ophthalmology 0 0 (1) 79-83
• French guidelines for the management of adult sickle cell disease: 2015 update.
  Published on 2015 by Centre de reference maladies rares (syndromes drepanocytaires majeurs)
• Association between Duffy antigen receptor expression and disease severity in sickle cell disease patients.
  Farawela Hala M, et al. Hematology (Amsterdam, Netherlands) 2016 2
• Endothelial nitric oxide synthase gene polymorphisms and the risk of vasculopathy in sickle cell disease.
  Yousry Sherif M, et al. Hematology (Amsterdam, Netherlands) 2016 2
• Screening for Structural Hemoglobin Variants in Bahia, Brazil.
  Silva Wellington Santos, et al. International journal of environmental research and public health 2016 0 (2)
• Genomic variants in the ASS1 gene, involved in the nitric oxide biosynthesis and signaling pathway, predict hydroxyurea treatment efficacy in compound sickle cell disease/?-thalassemia patients.
  Chalikiopoulou Constantina, et al. Pharmacogenomics 2016 2
• Genetic variants associated with fetal hemoglobin levels show the diverse ethnic origin in Colombian patients with sickle cell anemia.
  Fong Cristian, et al. Biome?dica : revista del Instituto Nacional de Salud 2015 9 (3) 437-43
• Neonatal Screening and the Clinical Outcome in Children with Sickle Cell Disease in Central India.
  Upadhye Dipti S, et al. PloS one 2016 0 (1) e0147081
• Prevalence of Hepatitis C among Egyptian Children with Sickle Cell Disease and the Role of IL28b Gene Polymorphisms in Spontaneous Viral Clearance.
  Mousa Somaia Mohammed, et al. Mediterranean journal of hematology and infectious diseases 2016 0 (1) e2016007
• California Newborn Screening Program
  Disease: NA; Type: Program; State: California
• Kentucky Newborn Screening Program
  Disease: NA; Type: Program; State: Kentucky
• Genetic Disease & Early Childhood
  Disease: Birth defects; Type: Program; State: Missouri
• Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening.
  Kunz Joachim B, et al. Annals of hematology 2015 12
• Prevalence of pain-related single nucleotide polymorphisms in patients of African origin with sickle cell disease.
  Jhun Ellie H, et al. Pharmacogenomics 2015 11

• CDC Information (9)
• CDC-Authored Pub (16)

• Human (18)
• Pathogen (1)

• Human (264)
• Pathogen (0)

• Human (49)
• Pathogen (0)

• Guidelines (3)
• Tier Table (0)
• Synthesis (4)

• Implementation (8)

Relevant Resources

• Cancer Genomics and Epidemiology Navigator (CGEN)
• Genetics and Genomics Competencies Center (G2C2)
• NIH Genetic Testing Registry
• NIH MedGen Database
• Online Mendelian Inheritance in Man (OMIM)
• PharmGKB