From the Guidelines
Hereditary spherocytosis does not typically present with leukocytosis (elevated white blood cell count). The primary laboratory findings in hereditary spherocytosis include anemia, increased reticulocyte count, elevated indirect bilirubin, and the presence of spherocytes on peripheral blood smear, as seen in other hereditary hemolytic diseases such as pyruvate kinase deficiency 1. Key characteristics of hereditary spherocytosis include:
- Anemia due to premature destruction of red blood cells
- Increased reticulocyte count indicating compensatory erythropoiesis
- Elevated indirect bilirubin as a result of hemolysis
- Presence of spherocytes on peripheral blood smear
- Normal white blood cell counts unless there is a concurrent infection or other inflammatory process The pathophysiology of hereditary spherocytosis involves mutations in proteins that maintain the red blood cell membrane structure, which affects red blood cells specifically but does not impact white blood cell production or function. If elevated white blood cell counts are observed in a patient with hereditary spherocytosis, clinicians should investigate for other causes such as infection, inflammation, or possibly splenic sequestration during an acute hemolytic crisis.
From the Research
Hereditary Spherocytosis and Leukocytosis
- There is no direct evidence in the provided studies that hereditary spherocytosis typically presents with leukocytosis (elevated white blood cell count) 2, 3, 4, 5, 6.
- The studies focus on the diagnosis, treatment, and outcomes of hereditary spherocytosis, with an emphasis on splenectomy as a treatment option 2, 3, 4, 5, 6.
- The clinical manifestations of hereditary spherocytosis are primarily dependent on the severity of hemolysis, which can result in anemia, jaundice, and splenomegaly 4, 6.
- While the studies discuss various complications associated with hereditary spherocytosis, such as cholelithiasis and aplastic crises, they do not mention leukocytosis as a typical presentation 4, 6.