This site is intended for healthcare professionals

Go to /sign-in page

You can view 5 more pages before signing in

Clinical features

Authoring team

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:


Create an account to add page annotations

Annotations allow you to add information to this page that would be handy to have on hand during a consultation. E.g. a website or number. This information will always show when you visit this page.

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.