Ontology highlight
ABSTRACT:
SUBMITTER: Inusa BPD
PROVIDER: S-EPMC7510211 | biostudies-literature | 2019 Jun
REPOSITORIES: biostudies-literature
Inusa Baba P D BPD Hsu Lewis L LL Kohli Neeraj N Patel Anissa A Ominu-Evbota Kilali K Anie Kofi A KA Atoyebi Wale W
International journal of neonatal screening 20190507 2
Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder. Understanding the pathogenesis and pathophysiology of the disorder is central to the choice of therapeutic development and intervention. In this special edition for newborn sc ...[more]