What is the most specific investigation for Hereditary Spherocytosis sir?
The most specific investigation for Hereditary Spherocytosis is the osmotic fragility test.
Hereditary Spherocytosis (HS) is a genetic disorder of the red blood cells (RBCs) characterized by the presence of spherocytic RBCs, which are smaller, rounder, and more fragile than normal RBCs. These abnormal RBCs are prone to rupture prematurely, leading to hemolytic anemia.
The osmotic fragility test is a laboratory test that measures the ability of RBCs to resist hemolysis (rupture) when exposed to different levels of osmotic stress. In this test, RBCs are exposed to a series of saline solutions with increasing levels of osmotic pressure, and the degree of hemolysis is measured.
In HS, RBCs are more fragile and susceptible to hemolysis than normal RBCs, which leads to increased hemolysis in the test. The osmotic fragility test is therefore a sensitive and specific test for the diagnosis of HS.
However, it is important to note that the diagnosis of HS is typically based on a combination of clinical findings, family history, and laboratory tests, and the osmotic fragility test alone may not be sufficient to confirm the diagnosis in all cases. Other tests that may be useful in the diagnosis of HS include peripheral blood smear examination, RBC membrane protein analysis, and genetic testing.