hereditary spherocytosis
Pronunciation: sfear-oh-sy-TOH-sis
An inherited disorder affecting red blood cell membrane proteins, causing cells to become spherical and prone to hemolysis.
Full Definition
Hereditary spherocytosis is the most common inherited hemolytic anemia in Northern European populations, caused by defects in red blood cell membrane proteins including spectrin, ankyrin, or protein 4.2. The condition leads to loss of membrane surface area, causing red blood cells to assume a spherical shape that makes them less deformable and more susceptible to splenic destruction. Clinical manifestations include anemia, jaundice, splenomegaly, and gallstones. Diagnosis is confirmed by osmotic fragility testing or flow cytometry. Treatment may include splenectomy in severe cases, which typically resolves the hemolysis although spherical cells persist.
Usage
Usage note: Distinguish from acquired spherocytosis, which has different causes and implications.
In Context
- "The family history of anemia and splenectomy suggested hereditary spherocytosis as the underlying diagnosis." — genetic counseling report
- "Osmotic fragility testing confirmed the diagnosis of hereditary spherocytosis in this pediatric patient." — laboratory consultation