Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment
AbstractSickle 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 screening for haemoglobin disorders, it is pertinent to describe the genetic, pathologic and clinical presentation of sickle cell disease as a prelude to the justification for screening. Through a systematic review of the literature using search terms relating to SCD up till 2019, we identified relevant descriptive publications for inclusion. The scope of this review is mainly an overview of the clinical features of pain, the cardinal symptom in SCD, which present following the drop in foetal haemoglobin as young as five to six months after birth. The relative impact of haemolysis and small-vessel occlusive pathology remains controversial, a combination of features probably contribute to the different pathologies. We also provide an overview of emerging therapies in SCD. View Full-Text
Share & Cite This Article
Inusa, B.P.D.; Hsu, L.L.; Kohli, N.; Patel, A.; Ominu-Evbota, K.; Anie, K.A.; Atoyebi, W. Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment. Int. J. Neonatal Screen. 2019, 5, 20.
Inusa BPD, Hsu LL, Kohli N, Patel A, Ominu-Evbota K, Anie KA, Atoyebi W. Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment. International Journal of Neonatal Screening. 2019; 5(2):20.Chicago/Turabian Style
Inusa, Baba P.D.; Hsu, Lewis L.; Kohli, Neeraj; Patel, Anissa; Ominu-Evbota, Kilali; Anie, Kofi A.; Atoyebi, Wale. 2019. "Sickle Cell Disease—Genetics, Pathophysiology, Clinical Presentation and Treatment." Int. J. Neonatal Screen. 5, no. 2: 20.
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.