What are the symptoms and management of sickle cell disease in children?

Symptoms of Sickle Cell Disease in Children

Children with sickle cell disease (SCD) commonly experience acute painful crises, anemia, increased susceptibility to infections, and various organ complications that significantly impact their morbidity, mortality, and quality of life. 1

Key Acute Manifestations

Pain Episodes

• Painful vaso-occlusive crises are the hallmark of SCD
• Manifests as dactylitis (painful swelling of fingers) in infancy
• Affects long bones, sternum, ribs, or back in older children
• Often requires aggressive pain management with opioids for severe pain
• Can be triggered by dehydration, cold exposure, or physical exertion

Infections

• Increased susceptibility due to functional asplenia
• Common pathogens:
  • Streptococcus pneumoniae (most dangerous)
  • Haemophilus influenzae type b
  • Salmonella species
  • Mycoplasma pneumoniae
  • Parvovirus B19 2
• Fever ≥38.5°C requires urgent evaluation and parenteral antibiotics
• Penicillin prophylaxis is essential until at least age 5 years

Acute Chest Syndrome

• Life-threatening complication characterized by:
  • New pulmonary infiltrates on chest X-ray
  • Respiratory symptoms (chest pain, fever, tachypnea, cough, wheeze)
  • Hypoxemia
• Can develop after surgery or during hospitalization for pain crisis
• More common in children with reactive airway disease 1
• Requires aggressive treatment with oxygen, incentive spirometry, antibiotics, and often transfusions

Splenic Sequestration

• Potentially life-threatening complication in children 5 months to 2 years old
• Characterized by:
  • Rapidly enlarging spleen
  • Acute drop in hemoglobin (>2 g/dL below baseline)
  • Hypovolemic shock
  • Thrombocytopenia
• Requires prompt recognition and careful red blood cell transfusion
• Parents should be taught to check child's spleen daily 1

Stroke

• Occurs in up to 10% of children with SCD
• Presenting symptoms include:
  • Hemiparesis
  • Aphasia or dysphasia
  • Seizures
  • Severe headache
  • Cranial nerve palsy
  • Altered consciousness
• Requires urgent evaluation and possible exchange transfusion
• All children should undergo regular transcranial Doppler screening 1

Transient Aplastic Crisis

• Characterized by worsening anemia with decreased reticulocyte count (<1%)
• Often triggered by parvovirus B19 infection
• May require red blood cell transfusions
• Highly contagious - isolation from pregnant healthcare workers and other SCD patients is recommended 1

Priapism

• Prolonged painful erection occurring in two forms:
  1. Stuttering episodes lasting <4 hours (often recurrent)
  2. Severe acute ischemic episodes lasting ≥4 hours (medical emergency)
• Treated with hydration and analgesia
• Episodes lasting >4 hours require urgent urological intervention to prevent permanent damage 1

Chronic Manifestations

Anemia

• Chronic hemolytic anemia is universal in SCD
• Baseline hemoglobin typically 60-90 g/L in severe forms (HbSS, HbSβ0)
• Higher hemoglobin levels in HbSC disease
• Does NOT improve with iron supplementation unless iron deficiency is proven 1

Growth and Development

• Growth delay and delayed puberty are common
• Regular monitoring of growth parameters is essential
• May have neuropsychological impairment affecting school performance even without overt stroke 1

Organ Damage

• Splenomegaly progressing to functional asplenia in early childhood
• Cardiomegaly and potential pulmonary hypertension
• Avascular necrosis of hips or shoulders
• Gallstones causing right upper quadrant pain or jaundice
• Obstructive and restrictive lung disease
• Retinopathy (especially in HbSC disease)
• Leg ulcers (more common in adolescents) 1

Important Considerations

Disease Severity Varies by Genotype

• HbSS and HbSβ0-thalassemia: Most severe forms with earlier symptom onset
• HbSC and HbSβ+-thalassemia: Generally milder disease course
• Fetal hemoglobin (HbF) levels >8% associated with milder phenotype 1

Early Detection and Prevention

• Newborn screening allows early diagnosis before symptoms develop
• Penicillin prophylaxis and vaccination significantly reduce infection-related mortality
• Transcranial Doppler screening helps identify stroke risk
• Hydroxyurea therapy should be offered to most children regardless of symptoms 3

Family Education

• Families must be educated about:
  • Recognizing fever, pallor, and respiratory distress as emergencies
  • Daily spleen examination in young children
  • Pain management strategies
  • Importance of hydration and avoiding triggers
  • Medication adherence (especially penicillin prophylaxis)
  • School accommodations through 504 plans 1

Early recognition of symptoms and prompt treatment of complications are essential to reduce morbidity and mortality in children with sickle cell disease.