Sickle Cell Disease

Foundation 5 min read

Sickle Cell Disease

By Natasha Roberts · 2024

Paediatric Conditions

Source: Sickle cell disease.pptx (14 slides) Author: Natasha Roberts Learning Level: Primarily Foundation/Intermediate


1. Definition and Pathophysiology

What Is Sickle Cell Disease?

Learning Level: Foundation


2. Genetics / Inheritance

AspectDetail
Inheritance patternAutosomal recessive genetic disease
Carrier parentsBoth parents are carriers; 1 in 4 chance of inheriting the condition
ScreeningDiagnosed through newborn heel prick test
Most common typeHomozygous sickle cell anaemia (HbSS) is the most common and most severe form of sickle disease in the UK
PrevalenceHbSS accounts for about 70% of patients

Learning Level: Foundation


3. Clinical Presentation / Signs and Symptoms

Sickle Cell Crisis (SCC)

Flare-ups of sickle cell disease result in a sickle cell crisis (SCC):

Learning Level: Foundation

SCD and Pain — Mechanism

AspectDetail
MechanismVaso-occlusion within the bone marrow vasculature
ResultLeads to bone infarction
PathwaysRelease of inflammatory mediators that activate afferent nerve fibres
Character of painThrobbing, sharp or gnawing pain

Learning Level: Intermediate


4. Medical Management

Treatment for SCD

Under haematology team management:

TreatmentDetail
AnalgesiaPain management is central to SCD care
OxygenWhere indicated
HydrationIV and/or oral fluids
Blood transfusionOn PICU when required

Learning Level: Foundation


5. Physiotherapy Assessment and Interventions

Referral Criteria

Physiotherapy is referred when there is a “chest crisis” — defined by the presence of:

Physiotherapy Management

InterventionDetail
AnalgesiaEnsure adequate analgesia before treatment
OxygenEnsure adequate FiO2 as required
Incentive spirometryPrimary physiotherapy intervention
Airway clearance techniquesAs indicated
Supported coughAssist effective expectoration
MobilisationAs tolerated

Learning Level: Foundation/Intermediate


6. Incentive Spirometry (IS)

Rationale

How It Works

Learning Level: Foundation

IS Instructions — Set Up

  1. Begin by sitting on the edge of your bed or chair
  2. Hold the incentive spirometer in an upright position
  3. Breathe out normally
  4. Place the spirometer mouthpiece in your mouth and close your lips tightly around it

IS Instructions — Technique

  1. Breathe in through your mouth as slowly and deeply as you can, causing the piston or ball to rise toward the top of the chamber
  2. Hold your breath for 3—5 seconds or as long as possible, trying to reach the goal indicator
  3. Remove the mouthpiece from your mouth
  4. Breathe out normally and the piston or ball will return to the bottom of the chamber
  5. Rest for a few seconds, then repeat the steps 10 or more times
  6. Go slowly — take some regular breaths between deep breaths to prevent lightheadedness
  7. Do this every 1—2 hours when you are awake
  8. After each set of 10 deep breaths, cough a few times to clear your lungs

Learning Level: Foundation


7. Precautions and Contraindications

Critical Clinical Safety Information

PrecautionRationale
Manual chest techniques are usually CONTRAINDICATEDHigh potential for fracture, high likelihood of increased pain, and clotting disorders
Care with suctionHigh likelihood of clotting disorders; relative risks must be clinically reasoned
Check blood markersAlways check haematological markers before intervention
Discuss with medical teamCollaborative decision-making is essential

Learning Level: Foundation — This is critical safety knowledge for all physiotherapists


8. Complications / Red Flags

Acute Chest Syndrome (ACS)

Physiotherapy referral is triggered by “chest crisis” which encompasses:

General Red Flags

Learning Level: Intermediate


9. References