Increased osmotic fragility is seen in –
**Core Concept**
Increased osmotic fragility is a condition where red blood cells are more prone to hemolysis when exposed to changes in osmotic pressure. This is often due to defects in the cell membrane, leading to an imbalance in the influx and efflux of water.
**Why the Correct Answer is Right**
The correct answer is related to hereditary spherocytosis, a genetic disorder characterized by a mutation in the spectrin gene. Spectrin is a protein that helps maintain the shape and structural integrity of red blood cells. In hereditary spherocytosis, the spectrin mutation leads to a loss of membrane surface area, making the cells more prone to osmotic stress and hemolysis. The cells also become more spherical in shape, hence the name spherocytosis.
**Why Each Wrong Option is Incorrect**
**Option A:** Paroxysmal Nocturnal Hemoglobinuria (PNH) is a condition characterized by the destruction of red blood cells, but it is not primarily due to increased osmotic fragility. PNH is caused by a mutation in the PIGA gene, leading to a deficiency of the glycosylphosphatidylinositol (GPI) anchor, which is essential for the proper functioning of the complement regulatory proteins on the surface of red blood cells.
**Option B:** Sickle cell anemia is a genetic disorder characterized by the production of abnormal hemoglobin, leading to sickling of red blood cells under low oxygen conditions. While sickle cells do have increased fragility, it is not due to increased osmotic fragility.
**Option C:** Thalassemia is a genetic disorder characterized by mutations in the genes that encode alpha or beta globin chains of hemoglobin. While thalassemia does lead to anemia, it is not primarily due to increased osmotic fragility.
**Clinical Pearl / High-Yield Fact**
Hereditary spherocytosis is an X-linked dominant disorder, meaning that females are often asymptomatic carriers, while males are more severely affected.
**Correct Answer:** D. Hereditary spherocytosis.