Clinical features

The initial clinical presentation is usually seen during childhood when the HbF levels starts to fall and the amount of HbS begins to rise (1)

• during infancy or early childhood may present with:
  • severe anemia - homozygotes are not anaemic from birth, a progressive anaemia develops from about 3 months of age. The chronic haemolysis may result in exogenous erythropoeisis, with frontal bossing
  • dactylitis (painful swelling of the hands and feet) - is the most common presenting symptom of infants aged between 9-18 months (although majority of children do not experience this)
  • pneumococcal sepsis (pneumococcal sepsis may even cause sudden death in infants) (2,3)
  • acute chest syndrome
  • pallor - in splenic sequestration
  • ischemic stroke
  • jaundice (3)
• in older children and adults
  • majority of hospital admissions are due to acute crisis episodes caused by vaso-occlusion affecting the long bones (2).
  • may effect any organ in the body e.g.- stroke, aplastic crisis, acute chest syndrome, splenomegaly, renal disease, cholelithiasis, leg ulcers, eye complications, priapism (2,3)

Repeated splenic infarction results in hyposplenism and an increased rate of infection.

Patients may lead normal lives free of complications but for the majority, their life is complicated by crises of varying frequency, severity and type:

• painful
• aplastic
• sequestration
• lung
• abdominal

Reference:

• (1) Sickle Cell Society 2008. Standards for the clinical care of adults with sickle cell disease in the UK
• (2) NHS Antenatal and Newborn Screening Programmes 2010. Sickle cell disease in childhood: standards and guidelines for clinical care
• (3) American Academy of Pediatrics. Health supervision for children with sickle cell disease. Pediatrics. 2002;109(3):526-35