Hereditary spherocytosis

EDTA Blood, 5ml

Uncooled and uncentrifuged EDTA blood (blood collection Monday to Thursday, dispatch by courier). Processing in the analysis laboratory within 24 hours necessary.

Hereditary spherocytosis (SH) is one of the most common forms of congenital anemia in Northern Europe.
Due to various defects in the erythrocyte membrane, which promote the spherical shape of the erythrocytes and reduce their plasticity, increased degradation in the spleen leads to hemolytic anemia.
The clinical features of classic HS are hemolysis with anemia, reticulocytosis, splenomegaly, jaundice, spherocytosis, increased erythrocyte osmotic fragility and relative family history.

The examination is carried out by flow cytometry (FACS):
The binding of the green fluorescent eosin-5-maleimide dye (EMA) to the erythrocyte membrane band 3 is examined. In most forms of hereditary spherocytosis, EMA binding to the destabilized erythrocyte membrane is reduced by 25-30% (sensitivity 90-95%, specificity 95-99%).