Hereditary Spherocytosis

Shawkat Ali
Coordinator BS MLT
 Introduction
• Hereditary spherocytosis (HS) is a familial
hemolytic disorder associated with a variety of
mutations that lead to defects in red blood cell
(RBC) membrane proteins. The hemoglobin is
normal. There is no quantitative or qualitative
defect of the hemoglobin molecule. There is
inherited abnormalities in the skeletal protein
network of the red cell membrane.
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• This result in decreased flexibility of the RBC’S.
when these less flexible RBC’S more through
the every small capillaries of the spleen, they
get damaged. The damaged protein of the red
cell membrane is eaten up(phogocytosis) in
the spleen. Thus changing the shape from
discoid(biconcave) to spheroidal (round).
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• Clinically, HS shows marked heterogeneity, ranging
from an asymptomatic condition to fulminant
hemolytic anemia. Patients with severe cases may
present as neonates, while those with mild HS may
not come to medical attention until adulthood,
when an environmental stressor uncovers their
disorder. The major complications of HS are
aplastic or megaloblastic crisis, hemolytic crisis,
and cholecystitis and cholelithiasis.
 The classic laboratory features of HS include
the following
• Mild to moderate anemia
• Hb; normal to decreased.
• MCV; normal to decreased.
• MCH; normal
• Reticulocytosis
• Increased mean corpuscular hemoglobin concentration
(MCHC)
• Spherocytes on the peripheral blood smear
• Hyperbilirubinemia
• Abnormal results on the incubated osmotic fragility test
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