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Hematology & Blood Transfusion

Sickle Cell Disease (SCD)

A group of inherited red blood cell disorders characterized by the presence of abnormal haemoglobin (Haemoglobin S - HbS). HbS causes red blood cells to become rigid and sickle-shaped, leading to vaso-occlusion, chronic haemolytic anaemia, and chronic organ damage.

Also known as: SCD, Sickle Cell Anaemia (SCA - refers specifically to HbSS)

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Referral and warning signs

When to refer

Referral to specialized SCD clinic/Haematologist for: Diagnosis confirmation, Comprehensive care, Hydroxyurea/transfusion initiation, Severe/frequent VOC, Acute complications (ACS, stroke etc), Chronic organ damage.

Red flags

  • Fever >38.5°C
  • Signs of Acute Chest Syndrome
  • Neurological symptoms (Stroke)
  • Sudden severe pallor + enlarging spleen (Sequestration)
  • Sudden severe pallor + low retics (Aplastic crisis)
  • Priapism >2-4 hours

Signs and symptoms

  • Chronic Haemolytic Anaemia: Pallor, fatigue, jaundice, gallstones.
  • Vaso-occlusive Crises (VOC) / Painful Crises: Episodic acute pain (bone, chest, abdomen).
  • Dactylitis ('Hand-Foot Syndrome'): Painful swelling hands/feet (infancy).
  • Acute Chest Syndrome (ACS): Life-threatening. Fever, cough, chest pain, dyspnoea, hypoxia, CXR infiltrate.
  • Stroke: Ischaemic or haemorrhagic. Higher risk in children.
  • Splenic Sequestration Crisis: Rapid spleen enlargement, severe anaemia, shock (young children).
  • Aplastic Crisis: Temporary RBC production halt (Parvovirus B19), rapid Hb drop, low retics.
  • Increased infections: Due to functional asplenia (risk of encapsulated organisms).
  • Chronic Organ Damage: Leg ulcers, Avascular necrosis, Retinopathy, Pulmonary hypertension, CKD, Cardiomyopathy, Priapism.

Risk factors

  • Inherited genetic disorder (autosomal recessive).
  • Homozygous HbS (HbSS) or compound heterozygous (HbSC, HbS/beta-thal).
  • African, Mediterranean, Middle Eastern, Indian ancestry.

Diagnosis

Clinical assessment

Suspect based on symptoms (recurrent pain, anaemia, jaundice, dactylitis) and ethnic background/family history.

Investigations

  • Haemoglobin Electrophoresis / HPLC: Confirmatory test. Identifies Hb types (HbS, HbA, HbF etc) and determines genotype (SS, SC, AS etc).
  • CBC & Peripheral Blood Film: Chronic anaemia, high retics, sickle cells, Howell-Jolly bodies.
  • Sickling Test: Screening only, confirms HbS presence.
  • Transcranial Doppler (TCD) Ultrasound: Screen children for stroke risk.
  • Baseline organ function tests (renal, liver, echo, eye exam).

Diagnostic criteria

Demonstration of predominantly HbS on haemoglobin electrophoresis/HPLC.

Management

Non-pharmacological management

  • Comprehensive Care (Specialized clinic): Education, Hydration, Avoid triggers (cold, dehydration, stress), Folic Acid 5mg daily, Prompt infection management, Psychosocial support.

Pharmacological treatment

  • Pain Management (VOC): Mild/Moderate (Home - hydration, warmth, Paracetamol, NSAIDs, weak opioids). Severe (Hospital - IV hydration, Oxygen if hypoxic, Strong opioids - Morphine, NSAIDs).
  • Malaria Prophylaxis: Lifelong recommended in endemic areas.
  • Penicillin Prophylaxis: Oral Pen V BID from infancy to age 5+.
  • Vaccinations: Crucial. Routine + Pneumococcal (PCV, PPSV23), Meningococcal, Influenza.
  • Hydroxyurea (Hydroxycarbamide): Increases HbF, reduces VOC/ACS. Indicated for frequent VOC, severe anaemia, history ACS/stroke. Specialist initiation/monitoring.
  • Blood Transfusion: Simple (severe acute anaemia, ACS, stroke, pre-op). Exchange (acute stroke, severe ACS). Chronic (stroke prevention).
  • Iron Chelation: If chronic transfusion iron overload.
  • Manage Specific Complications (ACEi for nephropathy etc).

Monitoring

Regular follow-up. Monitor growth, CBC, retics. Annual organ function screen (renal, liver, echo, eye). Annual TCD (children). Monitor HbF/CBC on Hydroxyurea.

Complications

  • VOC, ACS, Stroke, Avascular Necrosis, Chronic Organ Damage (kidney, lung, heart, eye), Leg Ulcers, Gallstones, Priapism, Infections, Splenic Sequestration/Infarction, Aplastic Crisis.

Prevention

  • Genetic counseling, prenatal diagnosis.
  • Newborn screening.
  • Prophylactic penicillin and vaccinations.
  • Malaria prophylaxis.
  • Hydroxyurea.
  • Stroke prevention (TCD + transfusion).

Patient education

  • Understanding SCD.
  • Recognizing triggers.
  • Importance of hydration.
  • Pain management plan.
  • Recognizing serious complications.
  • Importance of prophylaxis (folic acid, penicillin, malaria) & vaccinations.
  • Hydroxyurea therapy details if applicable.
  • Genetic counseling.

Uganda-specific notes

High prevalence. Newborn screening not widespread. Malaria/pneumococcal prophylaxis critical. Access to Hydroxyurea, TCD, transfusion (esp exchange) limited. Osteomyelitis often Salmonella.

References

  • Uganda Clinical Guidelines (UCG) 2023

    Chapter 11, Section 11.1.3

  • National Sickle Cell Disease Guidelines, MOH Uganda

    (Refer to specific MOH guidelines)

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