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

Summary

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.

Physical Description

1 electronic resource (162 p.)

ISBN

books978-3-03921-615-4
9783039216154
9783039216147

Access

Open Access