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Pathology - Hereditary spherocytosis
Definition: An inherited hemolytic disorder resulting from mutations in genes that encode proteins essential for preserving the integrity of the red blood cell membrane.
Epidemiology • Prevalent, with an incidence rate of up to 1 in 2,000. Aetiology: Mutations in genes that encode red blood cell membrane proteins. Pathogenesis: Mutations induce instability of the red blood cell membrane, resulting in lipid leakage from the membrane. The decrease in the membrane's surface area compels red blood cells to adopt a spherical configuration (spherocyte). Spherocytes exhibit reduced deformability compared to normal erythrocytes, rendering them vulnerable to entrapment in the spleen and subsequent destruction by splenic macrophages. The extent of haemolysis exhibits significant variability. • The majority of patients exhibit mild to severe anemia (Hb 8–12 g/dL). • Splenomegaly is prevalent.
Complete blood count • Mild to severe anemia (Hb 8–12 g/dL). • Elevated reticulocyte count. Peripheral blood smear Spherocytes are easily identifiable. • are furthermore present.
Supplementary examinations
The negative direct antiglobulin test differentiates spherocytosis from immunological hemolytic anemia, which exhibits analogous blood film findings. Prognosis • The majority of individuals exhibit well-compensated disease and necessitate just folate supplementation to prevent megaloblastic anemia. • Acknowledged consequences encompass gallstone disease (resulting from pigment gallstones) and aplastic crisis induced by parvovirus B19 infection. The latter may be lethal.
Definition: An inherited hemolytic disorder resulting from mutations in genes that encode proteins essential for preserving the integrity of the red blood cell membrane.
Epidemiology • Prevalent, with an incidence rate of up to 1 in 2,000. Aetiology: Mutations in genes that encode red blood cell membrane proteins. Pathogenesis: Mutations induce instability of the red blood cell membrane, resulting in lipid leakage from the membrane. The decrease in the membrane's surface area compels red blood cells to adopt a spherical configuration (spherocyte). Spherocytes exhibit reduced deformability compared to normal erythrocytes, rendering them vulnerable to entrapment in the spleen and subsequent destruction by splenic macrophages. The extent of haemolysis exhibits significant variability. • The majority of patients exhibit mild to severe anemia (Hb 8–12 g/dL). • Splenomegaly is prevalent.
Complete blood count • Mild to severe anemia (Hb 8–12 g/dL). • Elevated reticulocyte count. Peripheral blood smear Spherocytes are easily identifiable. • are furthermore present.
Supplementary examinations
The negative direct antiglobulin test differentiates spherocytosis from immunological hemolytic anemia, which exhibits analogous blood film findings. Prognosis • The majority of individuals exhibit well-compensated disease and necessitate just folate supplementation to prevent megaloblastic anemia. • Acknowledged consequences encompass gallstone disease (resulting from pigment gallstones) and aplastic crisis induced by parvovirus B19 infection. The latter may be lethal.
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