What's New

Last Posted: Feb 15, 2019

• Utilizing Next-Generation Sequencing for the Diagnosis and Clinical Management of Vascular Ehlers-Danlos Syndrome.
  Fujita Daishi et al. International heart journal 59(5) 911-913
• Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
  Ahrens-Nicklas Rebecca C et al. Journal of inherited metabolic disease 2019 Jan 42(1) 140-146
• Predicting opioid dependence from electronic health records with machine learning.
  Ellis Randall J et al. BioData mining 2019 123
• Transfusion service knowledge and immunohaematological practices related to sickle cell disease and thalassemia.
  Fasano R M et al. Transfusion medicine (Oxford, England) 2019 Feb
• Results of a multicenter universal newborn screening program for sickle cell disease in Italy: A call to action.
  Colombatti Raffaella et al. Pediatric blood & cancer 2019 Feb e27657
• Gene Therapy for Beta-Hemoglobinopathies: Milestones, New Therapies and Challenges.
  Ghiaccio Valentina et al. Molecular diagnosis & therapy 2019 Jan
• Hemophilia carrier's awareness, diagnosis, and management in emerging countries: a cross-sectional study in Côte d'Ivoire (Ivory Coast).
  Lambert Catherine et al. Orphanet journal of rare diseases 2019 Feb 14(1) 26
• Common genetic disorder found to cause serious disease and disability with age
  National Institute on Aging, January 2019
• Effectiveness of an Educational Program on Nurses' Knowledge and Practice in the Management of Acute Painful Crises in Sickle Cell Disease.
  Yacoub Mohammed Ibrahim et al. Journal of continuing education in nursing 2019 Feb 50(2) 87-95
• Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010-2017.
  Amatuni George S et al. Pediatrics 2019 Jan
• Preventive medicine can be more precise and precision medicine can be more preventive!
  MJ Khoury, CDC Blog, January 29, 2019
• Thalassemia Management: Balancing Blood and Iron
  Public Health Webinar Series on Blood Disorders. Feb 28, 2019 2:00 PM - 3:00 PM EST
• These Patients Had Sickle-Cell Disease. Experimental Therapies Might Have Cured Them.
  G Kolata, NY Times, January 27, 2019
• Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017
  G Amatuni et al, Pediatrics, January 25, 2019
• Association of Matched Sibling Donor Hematopoietic Stem Cell Transplantation With Transcranial Doppler Velocities in Children With Sickle Cell Anemia.
  Bernaudin Françoise et al. JAMA 2019 Jan (3) 266-276
• Matched Sibling Donor Hematopoietic Stem Cell Transplantation to Prevent Stroke in Children With Sickle Cell Anemia.
  Kwiatkowski Janet L et al. JAMA 2019 Jan (3) 251-252
• Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants.
  Tamosauskaite Jone et al. The journals of gerontology. Series A, Biological sciences and medical sciences 2019 Jan
• Recommendations for the clinical interpretation of genetic variants and presentation of results to patients with inherited bleeding disorders. A UK Haemophilia Centre Doctors' Organisation Good Practice Paper.
  Gomez Keith et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Jan 25(1) 116-126
• Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.
  Pilling Luke C et al. BMJ (Clinical research ed.) 2019 Jan 364k5222
• Thrombotic thrombocytopenic purpura: Toward targeted therapy and precision medicine.
  Coppo Paul et al. Research and practice in thrombosis and haemostasis 2019 Jan 3(1) 26-37