Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment

Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment

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...

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Bibliographic Details
Main Authors: Baba P. D. Inusa, Lewis L. Hsu, Neeraj Kohli, Anissa Patel, Kilali Ominu-Evbota, Kofi A. Anie, Wale Atoyebi
Format: Article
Language:English
Published: MDPI AG 2019-05-01
Series:International Journal of Neonatal Screening
Subjects:
sickle cell disease (SCD)
pathophysiology
hydroxyurea/hydroxycarbamide
haemolysis
vaso-occlusive crisis
acute chest syndrome
end-organ damage
bone marrow transplant
anaemia
foetal haemoglobin
gene therapy for haemoglobinopathies
Online Access:https://www.mdpi.com/2409-515X/5/2/20

Internet

https://www.mdpi.com/2409-515X/5/2/20

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