Hereditary spherocytosis is due to deficiency of:September 2007
**Core Concept**
Hereditary spherocytosis is a genetic disorder characterized by the production of abnormal, sphere-shaped red blood cells. This condition is caused by mutations in genes encoding proteins crucial for the structure and function of the red blood cell membrane.
**Why the Correct Answer is Right**
The correct answer is related to the spectrin-actin cytoskeleton of the red blood cell membrane. Spectrin and actin are essential proteins that provide structural integrity and elasticity to the membrane. A deficiency in one of the subunits of spectrin, specifically alpha-spectrin, leads to a weakened cytoskeleton, causing the red blood cells to lose their biconcave disk shape and become spherical. This is the primary cause of hereditary spherocytosis.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because ankyrin, another protein involved in the red blood cell membrane, is not the primary cause of hereditary spherocytosis. Ankyrin deficiency can lead to a different type of red blood cell disorder.
* **Option B:** Band 3 is a transmembrane protein that transports ions and helps maintain the red blood cell membrane's structure. However, its deficiency does not lead to hereditary spherocytosis.
* **Option D:** This option is incorrect because the defect in hereditary spherocytosis is not related to the glycolytic enzyme pyruvate kinase.
**Clinical Pearl / High-Yield Fact**
Hereditary spherocytosis is an autosomal dominant disorder, meaning that a mutation in one of the two copies of the affected gene is sufficient to cause the condition. This is why individuals with a family history of hereditary spherocytosis are at increased risk of developing the disorder.
**Correct Answer:** A. Alpha-spectrin deficiency is the primary cause of hereditary spherocytosis.