PNH is associated with a deficiency of :
**Core Concept**
Paroxysmal Nocturnal Hemoglobinuria (PNH) is a rare, acquired, life-threatening disease of the blood characterized by the destruction of red blood cells, bone marrow failure, and the potential for blood clot formation. At its core, PNH is associated with a deficiency of a specific protein that normally protects red blood cells from destruction by the immune system.
**Why the Correct Answer is Right**
PNH is associated with a deficiency of the glycosylphosphatidylinositol (GPI) anchor, which is essential for the attachment of various proteins to the surface of red blood cells. One of these proteins is CD55 (also known as decay-accelerating factor), which normally inhibits the activation of the complement system, a part of the immune system that helps to eliminate pathogens and damaged cells. Without CD55, the complement system can attack and destroy red blood cells, leading to the symptoms of PNH. Additionally, the deficiency of another protein, CD59 (also known as membrane inhibitor of reactive lysis), which normally prevents the formation of pores in red blood cell membranes, also contributes to the pathogenesis of PNH.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because the deficiency of the GPI anchor is not the primary cause of PNH; rather, it is a consequence of the underlying genetic defect.
**Option B:** This option is incorrect because the deficiency of CD59 is not the primary cause of PNH; while it does contribute to the pathogenesis of the disease, it is not the root cause.
**Option C:** This option is incorrect because the deficiency of the GPI anchor is not a result of a genetic mutation in the CD55 gene; rather, the genetic defect affects the production of the GPI anchor itself.
**Clinical Pearl / High-Yield Fact**
One key aspect of PNH is its association with bone marrow failure, which can manifest as aplastic anemia or leukemia. Patients with PNH are at increased risk of developing these conditions, and monitoring for bone marrow failure is an essential part of their care.
**Correct Answer: C. GPI anchor**