Sickle cell anemia is a disease of red blood cells. It is caused by an autosomal recessive single gene defect in the beta chain of hemoglobin, which results in production of sickle cell hemoglobin (HbS).
Sickle cells can obstruct blood flow and break down prematurely, and are associated with varying degrees of anemia.
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 hemoglobin electrophoresis, complete blood count, reticulocyte count, and peripheral blood smear.
Treatment goals include symptom control (including pain management), and prevention and management of complications.
Sickle cell anemia is caused by an autosomal recessive single gene defect in the beta chain of hemoglobin, which results in production of sickle cell hemoglobin (HbS).
Other forms of sickle cell disease may occur if HbS is inherited from one parent and another abnormal hemoglobin, or beta thalassemia, is inherited from the other parent (e.g., HbSC or HbSB thalassemia).
Sickle cell disease is associated with varying degrees of anemia, red cell hemolysis, 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 anemia, 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
- protuberant abdomen, often with umbilical hernia
- cardiac systolic flow murmur
- maxillary hypertrophy with overbite
1st investigations to order
- DNA-based assays
- hemoglobin isoelectric focusing (Hb IEF)
- cellulose acetate electrophoresis
- high-performance liquid chromatography (HPLC) fractionation
- hemoglobin solubility testing
- peripheral blood smear
- CBC 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
- Hemoglobinopathies in pregnancy
- Management of sickle cell disease in pregnancy
Sickle cell disease: what is it?
Sickle cell disease: what treatments work?More Patient leaflets
Venepuncture and phlebotomy: animated demonstration
Peripheral venous cannulation: animated demonstrationMore videos
- Log in or subscribe to access all of BMJ Best Practice
Use of this content is subject to our disclaimer