Hereditary spherocytosis is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. It is the most common form of inherited hemolytic anemia in the US and northern Europe. The severity of resultant hemolysis is related to the type and amount of membrane disruption.
May be diagnosed at any age. The key laboratory features are the presence of spherocytes on the blood smear in association with a negative direct antiglobulin test (DAT) and an elevated reticulocyte count.
May be newly diagnosed in children who present with severe anemia due to parvovirus infection. Patients may also be completely asymptomatic. In these cases, HS may be detected on a blood count/smear done for other reasons.
Management depends on the severity of the hemolysis and degree of anemia, but is generally supportive for most patients.
Splenectomy is the treatment of choice in patients with severe HS. This is best avoided until at least 6 years of age to reduce the risk of postsplenectomy sepsis.
Hereditary spherocytosis (HS) is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. The condition is dominantly inherited in 75% of people. The severity of the disorder is related to the type and amount of membrane disruption, which is genetically determined. The abnormal cells are spherical. They are removed by the spleen, resulting in a reduced red-cell life span that deviates from the normal of 120 days by a variable degree. In severe cases, red-cell life span may be only 10 days. The severity of hemolysis varies between different individuals and can be exacerbated by infection. HS is associated with splenomegaly (commonly), anemia (variably) with an increased reticulocyte count, and jaundice (occasionally).
History and exam
Key diagnostic factors
- positive family history
- at risk demographic
Other diagnostic factors
- hydrops fetalis or stillbirth
- family history of splenectomy, anemia, jaundice, or HS
- at risk demographic
1st investigations to order
- reticulocyte count
- blood smear
- serum bilirubin
- serum aminotransferases
- direct antiglobulin test (DAT)
Investigations to consider
- eosin-5-maleimide binding test
- acidified glycerol lysis test
- sodium dodecyl sulfate-polyacrylamide gel electrophoresis
- genetic analysis
neonates (<28 days old)
infants (>28 days old), children, and adults: severe HS
infants (>28 days old), children, and adults: mild-to-moderate HS
- Nonhemolytic anemia
- Other causes of hemolytic anemia
- Other causes of spherocytosis
- Recommendations regarding splenectomy in hereditary hemolytic anemias
- ICSH guidelines for the laboratory diagnosis of non-immune hereditary red cell membrane disorders
Jaundice in newborn babies
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