Sickle cell anaemia is a disease of red blood cells. It is caused by an autosomal recessive single gene defect in the beta chain of haemoglobin, which results in production of sickle cell haemoglobin (HbS).
Sickle cells can obstruct blood flow and break down prematurely, and are associated with varying degrees of anaemia.
Obstruction of small blood capillaries can cause painful crises, damage to major organs, and increased vulnerability to severe infections.
Associated with lifelong morbidity and reduced life expectancy.
All infants are screened, with findings confirmed by haemoglobin electrophoresis, full blood count, reticulocyte count, and peripheral blood smear.
Treatment goals include symptom control (including pain management), and prevention and management of complications.
Sickle cell anaemia is caused by an autosomal-recessive single gene defect in the beta chain of haemoglobin, which results in production of sickle cell haemoglobin (HbS).
Other forms of sickle cell disease may occur if HbS is inherited from one parent and another abnormal haemoglobin, or beta thalassaemia, is inherited from the other parent (e.g., HbSC or HbSB thalassaemia).
Sickle cell disease is associated with varying degrees of anaemia, red cell haemolysis, and obstruction of small blood capillaries causing painful crises, damage to major organs, and increased vulnerability to severe infections.
Sickle cell trait occurs if HbS is inherited from one parent and the normal HbA from the other.
History and exam
Key diagnostic factors
- parent(s) diagnosed with sickle cell anaemia, other sickle cell disease, or sickle cell trait
- persistent pain in skeleton, chest, and/or abdomen
Other diagnostic factors
- high temperature
- pneumonia-like syndrome
- bone pain
- visual floaters
- failure to thrive
- maxillary hypertrophy with overbite
- protuberant abdomen, often with umbilical hernia
- cardiac systolic flow murmur
1st investigations to order
- DNA-based assays
- haemoglobin isoelectric focusing (Hb IEF)
- cellulose acetate electrophoresis
- high-performance liquid chromatography (HPLC)
- haemoglobin solubility testing
- peripheral blood smear
- FBC and reticulocyte count
- iron studies
Investigations to consider
- pulse oximetry
- plain x-rays of long bones
- bacterial cultures
- chest x-ray
acute chest syndrome
- Septic arthritis
- Connective tissue diseases
- Management of sickle cell disease in pregnancy
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