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

  • Inusa, Baba P. D.1
  • Hsu, Lewis L.2
  • Kohli, Neeraj3
  • Patel, Anissa4
  • Ominu-Evbota, Kilali5
  • Anie, Kofi A.6
  • Atoyebi, Wale7
  • 1 Paediatric Haematology, Evelina London Children’s Hospital, Guy’s and St Thomas NHS Trust, London SE1 7EH, UK
  • 2 Pediatric Hematology-Oncology, University of Illinois at Chicago, Chicago, IL 60612, USA
  • 3 Haematology, Guy’s and St Thomas NHS Trust, London SE1 7EH, UK
  • 4 Holborn Medical Centre, GP, London WC1N 3NA, UK
  • 5 Paediatrics Department, Basildon and Thurrock University Hospitals, NHS Foundation Trust, Basildon SS16 5NL, UK
  • 6 Haematology and Sickle Cell Centre, London North West University Healthcare NHS Trust, London NW10 7NS, UK
  • 7 Department of Clinical Haematology, Cancer and Haematology Centre, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 9DU, UK
Published Article
International Journal of Neonatal Screening
Publication Date
May 07, 2019
DOI: 10.3390/ijns5020020
PMID: 33072979
PMCID: PMC7510211
PubMed Central


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 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.

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