Intrinsic cell wall defect of RBCs is feature of –
## Core Concept
The question tests understanding of inherited disorders affecting the red blood cell (RBC) membrane, specifically those characterized by intrinsic cell wall defects. These defects primarily affect the structural integrity of the RBC membrane, leading to various forms of hemolytic anemia. The key disorders include hereditary spherocytosis, hereditary elliptocytosis, and others that affect the cytoskeleton of RBCs.
## Why the Correct Answer is Right
Hereditary spherocytosis (HS) is a disorder characterized by the production of red blood cells that are sphere-shaped rather than being biconcave disks. This condition results from mutations in genes that encode proteins of the RBC cytoskeleton, such as ankyrin, band 3, spectrin, and protein 4.2. These proteins are crucial for maintaining the structural integrity and flexibility of the RBC membrane. The intrinsic defect in the cell wall leads to premature destruction of these abnormal RBCs, primarily in the spleen, resulting in hemolytic anemia.
## Why Each Wrong Option is Incorrect
- **Option A:** This option is blank and does not provide a recognizable condition related to RBC membrane defects.
- **Option B:** Similarly, this option is blank and does not correspond to any known condition affecting RBCs in the context provided.
- **Option C:** This option is also blank, lacking any information that could be used to assess its accuracy in relation to intrinsic cell wall defects of RBCs.
## Clinical Pearl / High-Yield Fact
A key clinical pearl for exams is that hereditary spherocytosis often presents with jaundice, splenomegaly, and anemia. A hallmark laboratory finding is the presence of spherocytes on the peripheral blood smear. This condition is typically inherited in an autosomal dominant pattern, though some cases may be autosomal recessive.
## Correct Answer: D. Hereditary Spherocytosis.