Qualitative Flow Cytometry
Functional testing of RBC sensitivity to osmotic stress
Hereditary spherocytosis is a genetic disorder that causes congenital hemolytic anemia through the production of structurally compromised red blood cells (RBCs). The severity of the disease varies widely; most cases are classified as moderate and present with symptoms such as anemia, jaundice, and splenomegaly. Depending on the level of severity, a diagnosis of hereditary spherocytosis can rule out other causes of hemolytic anemia.
1/2,000 in individuals of northern European descent
ANK1, EPB42, SLC4A1, SPTA1, SPTB
- Chromosomal location: 17q21.31
- Provides structure for the red cell cytoskeleton
Clinical sensitivity: 93%
Analytical sensitivity/specificity: unknown
Normal staining of band 3 protein with EMA does not suggest hereditary spherocytosis
Decreased staining of band 3 protein with EMA provides evidence for hereditary spherocytosis
Insufficient evidence to support or negate a diagnosis of hereditary spherocytosis
Unclear whether the level of band 3 protein staining is normal
aThree other rare disorders may be associated with a positive result for this test: congenital dyserythropoietic anemia type 2, Southeast Asian ovalocytosis, and hereditary pyropoikilocytosis.
Recent transfusion (within the last three months) may affect test results; correlation with clinical and other laboratory findings is strongly recommended.
Narla J, Mohandas N. Red cell membrane disorders. Int J Lab Hematol. 2017;39 Suppl 1:47-52.
Zamora EA, Schaefer CA. Hereditary spherocytosis. 2021. In: StatPearls. StatPearls Publishing; 2021.
Use to confirm a diagnosis of hereditary spherocytosis when hemolytic anemia and spherocytes are present.