Question

Which of the following is the most common inherited haemolytic anaemia caused by red cell membrane defect?

• A. \( \text{Hereditary Elliptocytosis} \)
• B. \( \text{Hereditary Spherocytosis} \)
• C. \( \text{Hereditary Stomatocytosis} \)
• D. \( \text{Hereditary Pyropoikilocytosis} \)

Hint:

\textbf{Haematology: Inherited Haemolytic Anaemias.} Remember the common red cell membrane defects and their associated anaemias. Hereditary spherocytosis is the most prevalent and is characterized by spherocytes and increased osmotic fragility.

Answer 1

The Correct Option is B

Hereditary haemolytic anaemias caused by red cell membrane defects are a group of genetic disorders affecting the structure and function of the red blood cell membrane, leading to increased red blood cell destruction (haemolysis) and anaemia. Among the given options, Hereditary Spherocytosis is the most common inherited haemolytic anaemia caused by a red cell membrane defect. Hereditary Spherocytosis is characterized by a defect in membrane proteins (most commonly spectrin, ankyrin, or band 3), leading to the formation of spherocytes – red blood cells that are sphere-shaped rather than the normal biconcave disc shape. These spherocytes are less deformable and are prematurely destroyed by the spleen, resulting in haemolytic anaemia, jaundice, and splenomegaly. Let's briefly look at the other options: Hereditary Elliptocytosis: This is another inherited red cell membrane disorder characterized by elliptically shaped red blood cells. While common in some populations, it is generally less prevalent than hereditary spherocytosis as a cause of significant haemolytic anaemia. Hereditary Stomatocytosis: This is a rare inherited disorder in which the red blood cells have a mouth-like (stoma) appearance. It can be associated with haemolytic anaemia of varying severity. Hereditary Pyropoikilocytosis: This is a rare and severe inherited red cell membrane disorder characterized by extreme poikilocytosis (abnormally shaped red blood cells), microspherocytes, and thermal sensitivity of red blood cells. Therefore, Hereditary Spherocytosis is the most common inherited haemolytic anaemia caused by a red cell membrane defect.