Hereditary spherocytosis is a ailment is instigated by intrinsic defects of the red cell membrane rendering them less deformable, spheroid, and defenseless to splenic sequestration and destruction.

What is the Pathology of Hereditary Spherocytosis?

The pathology of hereditary spherocytosis is:

-Etiology: The cause of hereditary spherocytosis is the mutations leading to defects in red blood cell (RBC). Hereditary spherocytosis is caused by diverse mutations affecting ankyrin, band 3, spectrin, or band 4.2, the proteins involved in the tethering interactions.

-Genes involved: None.

-Pathogenesis: The sequence of events that lead to hereditary spherocytosis erythrocyte membrane proteins intrinsic defects consequence the RBC cytoskeleton unsteadiness. Forfeiture of erythrocyte surface area chiefs the production of spherocytes, which are discarded quickly from the circulation by the action of the spleen. Hemolysis confined to the spleen triggers splenomegaly.

-Morphology: The morphology associated with hereditary spherocytosis shows trivial, hyperchromic red cells without the normal central zone of pallor.

-Histology: The histology associated with hereditary spherocytosis shows anisocytosis

How does Hereditary Spherocytosis Present? 

Patients with hereditary spherocytosis typically higher in females than males present at an age range of any age. The symptoms, features, and clinical findings associated with hereditary spherocytosis include splenomegaly, jaundice icterus, and darker urine.

How is Hereditary Spherocytosis Diagnosed? 

Hereditary spherocytosis is diagnosed through clinical presentation, laboratory studies like MCV, complete blood cell count, reticulocyte count, peripheral blood smear, Coombs testing, and fractionated bilirubin.

How is Hereditary Spherocytosis Treated? 

Hereditary spherocytosis is treated through medical care folic acid therapy, and possibly a splenectomy.

What is the Prognosis of Hereditary Spherocytosis?

The prognosis of hereditary spherocytosis is fair.