Newborn Screening for Sickle Cell Disease and other Haemoglobinopathies

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https://mdpi.com/books/pdfview/book/1649Author(s)
Colombatti, Raffaella
Cela, Elena
Lobitz, Stephan
Elion, Jacques
Language
EnglishAbstract
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 associated with the undiagnosed disease. Newborn screening helps to make the diagnosis early and to prevent fatal complications and diagnostic odysseys. This book gives an overview of diagnostic standards in newborn screening for sickle cell disease and examples of existing newborn screening programs.
Keywords
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 scienceISBN
9783039216154, 9783039216147Publisher website
www.mdpi.com/booksPublication date and place
2019Classification
Chemistry