Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

• Main Author: Colombatti, Raffaella (auth)
• Other Authors: Cela, Elena (auth), Lobitz, Stephan (auth), Elion, Jacques (auth)
• Format: Electronic Book Chapter
• Language: English
• Published: MDPI - Multidisciplinary Digital Publishing Institute 2019
• Subjects: Chemistry; glucose-6-phosphate dehydrogenase; hydroxyurea/hydroxycarbamide; n/a; cord blood; screening; hemoglobin pattern; capillary electrophoresis; sickle cell disease; (recommended) screening panel; vaso-occlusive crisis; Guthrie spots; newborn screening); foetal haemoglobin; harmonisation; review; birth prevalence; G6PD deficiency; prevention; end-organ damage; thalassemia; MALDI-TOF; IEF; acute chest syndrome; India; sickle cell and thalassaemia screening programme; 'Getting to Outcomes'; newborn screening; hemoglobinopathy; service users; public health engagement; automated HPLC; Kaduna State; gene therapy for haemoglobinopathies; ?-globin gene; methods; neonatal screening program; malaria; Plasmodium vivax; sub-Saharan Africa; patient organisations; health policy; pathophysiology; Sickle Cell Disease; mass spectrometry; sickle cell disorder; neonatal screening; non-tribal; Nigeria; point-of-care; HPLC; laboratory methods; registry; patient advocacy; bone marrow transplant; anaemia; hemoglobinopathies; tribal; newborn; burden of disease; patient representatives; diagnostics; policy making; haemolysis; Caribbean; high performance liquid chromatography (HPLC); sickle cell disease (SCD); implementation science
• Online Access: DOAB: download the publication; DOAB: description of the publication

Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies is a Special Issue of the International Journal of Neonatal Screening. Sickle cell disease is one of the most common inherited blood disorders, with a huge impact on health care systems due to high morbidity and high mortality a...