Hereditary spherocytosis is a genetic condition in which red blood cells are sphere-shaped, making them fragile and more easily destroyed as they pass through the spleen. It is usually autosomal dominant and is the most common inherited haemolytic anaemia in people of Northern European descent.
Presentation
The key presenting features of hereditary spherocytosis are:
- Jaundice (red blood cells release bilirubin when destroyed)
- Anaemia (due to red blood cell destruction)
- Gallstones
- Splenomegaly
Patients can have episodes of haemolytic crisis, sometimes triggered by infections, with increased haemolysis, leading to acutely worsened anaemia and jaundice.
Patients can also develop aplastic crisis, often triggered by parvovirus B19 infection. During an aplastic crisis, red blood cell production in the bone marrow decreases, leading to acute worsening of anaemia.
TOM TIP: Parvovirus B19 causes slapped cheek syndrome in children, which features non-specific viral symptoms, followed 2-5 days later by a bright red rash on both cheeks (“slapped cheeks”), followed a few days later by a reticular (lacy) rash on the trunk and limbs. Parvovirus B19 can cause complications in pregnancy and transient aplastic crisis in sickle cell disease and hereditary spherocytosis.
Investigations
Laboratory findings include:
- Low haemoglobin
- Raised bilirubin
- Raised mean corpuscular haemoglobin concentration (MCHC)
- Raised reticulocytes (due to rapid turnover of red blood cells)
- Spherocytes on a blood film
An EMA binding assay (eosin 5-maleimide binding) is the standard diagnostic test. Patients with hereditary spherocytosis have reduced EMA binding.
Management
Management involves:
- Folate supplementation
- Splenectomy in moderate to severe disease
- Cholecystectomy (removal of the gallbladder) may be required for gallstones
- Transfusions may be required during acute crises
Hereditary Elliptocytosis
Hereditary elliptocytosis is an autosomal dominant condition featuring ellipse-shaped red blood cells. Presentation and management are similar to hereditary spherocytosis, although it tends to be milder or asymptomatic.
Last updated April 2026
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