Sickle Cell Disease

Question 1

Epidemiology: SCD

Answer 1

Usually diagnosed from 6 months

Ethnicity:

• Africa (25%)
• Mediterranean
• Middle East
• India

Question 2

PATHOLOGY: SCD

Answer 2

• Autosomal recessive disorder
• Single base pair substitution in Hb gene
• Deoxygenated Hb become sickle shaped
• Sickle shape occludes small vessels = sickle crisis

Question 3

What can precipitate a sickling crisis?

Answer 3

• Infection
• Dehydration
• Cold
• Acidosis
• Hypoxia

Question 4

CLINICAL FEATURES: Sickle Crisis

Answer 4

• Bone pain
• Pleuritic chest pain: acute sickle chest syndrome commonest cause of death
• CVA, seizures
• Papillary necrosis
• Splenic infarcts
• Priapism
• Hepatic pain

Question 5

MANAGEMENT: Acute Chest Syndrome

Answer 5

Diagnosis

• SOB, chest pain
• CXR shows consolidation
• Hypoxia

Management

• Analgesia
• High flow O2
• Antibiotics
• CPAP ventilation

Question 6

MANAGEMENT: Sickle Crisis

Answer 6

• analgesia e.g. opiates (IV bolus then PCA)
• rehydrate
• oxygen
• consider antibiotics if evidence of infection
• blood transfusion
• exchange transfusion: e.g. if neurological complications

Question 7

COMPLICATIONS: Sickle Cell

Answer 7

Long-term complications

• Infections: Streptococcus pnemoniae
• Chronic leg ulcers
• Gallstones: haemolysis
• Aseptic necrosis of bone
• Chronic renal disease
• Retinal detachment, proliferative retinopathy

Surgical complications

• Bowel ischaemia
• Cholecystitis
• Avascular necrosis