Initial Workup and Management for Suspected Sickle Cell Disease
The initial workup for a patient suspected of having sickle cell disease should include hemoglobin electrophoresis as the definitive diagnostic test, along with a complete blood count, reticulocyte count, and comprehensive metabolic panel to assess baseline organ function. 1, 2
Diagnostic Testing
Primary Diagnostic Tests
- Hemoglobin electrophoresis: Gold standard for diagnosis
- Must be confirmed by a second test such as solubility test or electrophoresis on agar in citrate buffer 2
- Isoelectrofocusing provides better resolution than conventional cellulose acetate electrophoresis
- Some labs may use cation exchange HPLC as first-line test
Additional Laboratory Testing
- Complete blood count (CBC): To assess baseline hemoglobin (typically 7-11 g/dL in steady state) 3
- Reticulocyte count: Often elevated due to chronic hemolysis
- Comprehensive metabolic panel: To evaluate renal and liver function
- Lactate dehydrogenase (LDH) and bilirubin: Markers of hemolysis
- Baseline oxygen saturation measurement 4
Specialized Testing (Based on Age and Presentation)
- Children <16 years: Transcranial Doppler assessment to evaluate stroke risk 4
- Adults with symptoms of pulmonary hypertension (SpO2 <94%, reduced exercise capacity): Consider echocardiogram 4
Initial Management
First-Line Therapy
- Hydroxyurea: First-line disease-modifying therapy for most patients with SCD 1
- Increases fetal hemoglobin and reduces red blood cell sickling
- Should be initiated after consultation with hematology
Supportive Care
- Hydration: Maintain adequate hydration to prevent sickling
- Pain management: Develop individualized pain protocol based on severity
- Infection prevention: Antibiotic prophylaxis as indicated
Additional Therapies
- L-glutamine: FDA-approved adjunctive therapy
Management of Acute Complications
Acute Pain Crisis
- Aggressive hydration
- Appropriate analgesia
- Oxygen therapy if hypoxic
- Blood transfusion not routinely indicated for uncomplicated pain crisis 3
Indications for Blood Transfusion
- Acute hemolytic crisis
- Aplastic crisis
- Splenic sequestration
- Acute chest syndrome
- Stroke or high risk of stroke
- Perioperative management 3
Transfusion Considerations
- Blood should be HbS negative, Rh and Kell antigen matched 3
- Document transfusion history to avoid complications
- Monitor for hyperhemolysis syndrome, particularly in patients with recent transfusions 6
Multidisciplinary Care
- Establish care with hematology specialist
- Regular monitoring for disease complications:
- Nephropathy
- Retinopathy
- Avascular necrosis
- Priapism
- Leg ulcers 1
Common Pitfalls to Avoid
- Failure to recognize hyperhemolysis syndrome: Always ask about recent transfusions in patients with SCD presenting with acute symptoms 6
- Inadequate pain management: SCD patients are not more likely to develop addiction to pain medications than the general population 1
- Delayed diagnosis: In areas without newborn screening, maintain high index of suspicion in patients with unexplained severe atraumatic pain or normocytic anemia 1
- Inadequate perioperative management: Patients with SCD require special perioperative considerations including hydration, temperature regulation, and possible transfusion 4
By following this systematic approach to diagnosis and management, patients with suspected sickle cell disease can receive timely and appropriate care to minimize complications and improve quality of life.