A Rare Case of De Novo Beta-Thalassemia Diagnosed by Whole-Genome Sequencing in an Ethnically Danish Newborn

Keyphrases

• Whole Genome Sequencing 100%
• β-Thalassemia (β-thal) 100%
• Unrelated Donor 50%
• Index Patient 50%
• Reticulocytes 50%
• Thalassemia 50%
• Bone Marrow Transplantation 50%
• Peripheral Blood Smear 50%
• Jaundice 50%
• Trio Analysis 50%
• Erythroblastosis 50%
• Poikilocytosis 50%

Medicine and Dentistry

• Neonatal Infant 100%
• Whole Genome Sequencing 100%
• Beta Thalassemia 100%
• Reticulocyte 50%
• Thalassemia 50%
• Bone Marrow Transplantation 50%
• Blood Smear 50%
• Jaundice 50%
• Erythroblastosis 50%
• Poikilocytosis 50%