Question

A child presents with intermittent jaundice and splenomegaly. There is a history of similar complaints in the elder brother. Peripheral smear shows the following finding. How will you investigate this condition?

• A. Osmotic fragility test - Hereditary spherocytosis
• B. Coombs test - AIHA
• C. G6PD deficiency - Genetic testing
• D. Paroxysmal nocturnal hemoglobinuria - Flow cytometry

Answer 1

The Correct Option is A

The clinical presentation of intermittent jaundice and splenomegaly in the child, along with a family history of similar symptoms, suggests a hereditary condition affecting red blood cells. The peripheral smear likely shows spherical red blood cells (spherocytes), which is indicative of hereditary spherocytosis.

Hereditary spherocytosis is a genetic disorder characterized by the presence of spherocytes in the blood, which are prone to hemolysis, leading to jaundice and splenomegaly. The condition is inherited in an autosomal dominant manner, explaining the family history.

To investigate this condition, the osmotic fragility test is used. This test measures the red blood cells' susceptibility to hemolysis when exposed to varying concentrations of saline solutions. In hereditary spherocytosis, the red blood cells show increased osmotic fragility due to their spherical shape, which lacks the normal biconcave structure that provides flexibility.

Test	Condition
Osmotic fragility test	Hereditary spherocytosis
Coombs test	Autoimmune hemolytic anemia (AIHA)
Genetic testing	G6PD deficiency
Flow cytometry	Paroxysmal nocturnal hemoglobinuria

The correct investigation for the given clinical scenario is the osmotic fragility test for hereditary spherocytosis.