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Blood Diseases

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Last Posted: Jan 18, 2019

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• Clinical Classification, Screening and Diagnosis for Thalassemia.  
  Viprakasit Vip et al. Hematology/oncology clinics of North America 2018 32(2) 193-211
• Incidence of hemoglobinopathies and thalassemias in Northern Alberta. Establishment of reference intervals for HbF and HbA2.  
  Rodriguez-Capote Karina et al. Clinical biochemistry 2015 Jul 48(10-11) 698-702
• Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank  
  LC Pilling et al, BMJ, January 16, 2019
• Common gene disorder causes serious “stealth” disease, but could be easily treated  
  UK Biobank, January 17,. 2019
• Burden of Sickle Cell Disease in Ghana: The Korle-Bu Experience.  
  Asare Eugenia V et al. Advances in hematology 2018 20186161270
• Self-management recommendations for sickle cell disease: A Ghanaian health professionals' perspective.  
  Druye Andrews et al. Health science reports 2018 Nov 1(11) e88
• Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes.  
  Brandão Rita D et al. International journal of cancer 2019 Jan
• Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening.  
  Hannah-Shmouni Fady et al. Molecular genetics and metabolism reports 2019 Mar 1819-21
• Hydroxyurea - An Essential Medicine for Sickle Cell Disease in Africa.  
  Luzzatto Lucio et al. The New England journal of medicine 2019 Jan (2) 187-189
• Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa.  
  Tshilolo Léon et al. The New England journal of medicine 2019 Jan (2) 121-131
• The 1st WFH Gene Therapy Round Table: Understanding the landscape and challenges of gene therapy for haemophilia around the world.  
  Pierce Glenn F et al. Haemophilia : the official journal of the World Federation of Hemophilia 2019 Jan
• Sickle cell disease (SCD) community is hopeful that genome editing will rechart course of the disease  
  J Mjoseth, NHGRI, January 2019
• A CRISPR focus on attitudes and beliefs toward somatic genome editing from stakeholders within the sickle cell disease community.  
  Persaud Anitra et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
• Newborn screening for severe combined immunodeficiency and T-cell lymphopenia. 
  Puck Jennifer M et al. Immunological reviews 2019 Jan 287(1) 241-252
• Pediatric Outcomes in Transplant: PersOnaliSing Immunosuppression To ImproVe Efficacy (POSITIVE Study): The Collaboration and Design of a National Transplant Precision Medicine Program.  
  Papaz Tanya et al. Transplantation direct 2018 Dec 4(12) e410