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RBC Band 3 Protein Reduction in Hereditary Spherocytosis

2008460

RBC Band 3 Protein Reduction in Hereditary Spherocytosis 2008460

Method

Qualitative Flow Cytometry

Use to confirm a diagnosis of hereditary spherocytosis when hemolytic anemia and spherocytes are present.

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.

Disease Overview

Prevalence

1/2,000 in individuals of northern European descent

Genetics

Genes

ANK1, EPB42, SLC4A1, SPTA1, SPTB

Inheritance

Autosomal dominant: 75%
Autosomal recessive: 25%

Penetrance

Variable

Structure/Function

Chromosomal location: 17q21.31
Provides structure for the red cell cytoskeleton

Test Interpretation

Sensitivity/Specificity

Clinical sensitivity: 93%

Analytic sensitivity/specificity: unknown

Results

Test Result	Interpretation
Normal	Normal staining of band 3 protein with EMA does not suggest hereditary spherocytosis
Abnormal^a	Decreased staining of band 3 protein with EMA provides evidence for hereditary spherocytosis
Equivocal	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. EMA, eosin-5-maleimide

Limitations

Recent transfusion (within the last three months) may affect test results; correlation with clinical and other laboratory findings is strongly recommended.

References

28447420

Narla J, Mohandas N. Red cell membrane disorders. Int J Lab Hematol. 2017;39 Suppl 1:47-52.

30969619

Zamora EA, Schaefer CA. Hereditary spherocytosis. 2021. In: StatPearls. StatPearls Publishing; 2021.

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