Sickle Cell Disease

Exam Cram

• Sickle Cell Disease (SCD) is a haemoglobinopathy where the RBC are sickle shaped

• Autosomal recessive

• Sickle cell anaemia refers to the anaemia caused by having sickle cell disease

• Sickle cell trait presentation can be isolated haematuria

Outline

Background

• Sickle cell disease protects against Malaria , hence higher rates in sub-Saharan Africa

• Associations: renal papillary necrosis, Haemolytic Anaemia (HA), Stroke 

Assessment

Presentation

• African or Caribbean ethnicity

• Increased infections

• Severe pain crises

Investigations

• Anaemia: haemolytic

  • Low Hb & haptoglobni normal MCV

  • Raised reticulocytes & LDH

• RBC electrophoresis

• Urine dip: isolated haematuria

Diagnosis

Diagnostic criteria: screening + confirmatory test (as per local guidelines)

• Blood test looking at haemoglobin and genetic make up

• Majority picked up in pregnancy screening or newborn blood test (UK)

Differentials: Thalassemia 

Management

Acute crisis

• Strong analgesia: e.g. IV morphine (avoid NSAIDs)

Long Term

• Splenectomy: phenoxymethylpenicillin, pneumococcal vaccine

• DMARDs

  1. Hydroxycarbamide

 Med Reg Notes

Sickle Cell Trait

• 60% HbA, 40% HbS

• Presentation: haematuria

• Normal life expectancy despite

Resources and References

1. https://www.nhs.uk/conditions/sickle-cell-disease/

2. https://www.nhlbi.nih.gov/health/sickle-cell-disease/diagnosis

3. https://cks.nice.org.uk/topics/sickle-cell-disease/diagnosis/diagnosis-of-sickle-cell-disease/ 

Written in 2025