Increased osmotic fragility is characteristic of:September 2009
**Core Concept**
Hereditary spherocytosis is a congenital disorder characterized by the production of abnormally shaped red blood cells, which are more prone to destruction due to increased osmotic fragility.
**Why the Correct Answer is Right**
In hereditary spherocytosis, the red blood cells are spherical in shape due to the absence or dysfunction of ankyrin, spectrin, band 3, or protein 4.2, which are essential components of the red blood cell membrane. As a result, these cells have a reduced surface area-to-volume ratio, making them more susceptible to hemolysis when exposed to hypotonic solutions. The increased osmotic fragility is a hallmark of this disorder, leading to premature destruction of red blood cells.
**Why Each Wrong Option is Incorrect**
**Option B:** Sickle cell anemia is characterized by sickling of red blood cells due to a point mutation in the beta-globin gene, leading to abnormal hemoglobin polymerization. While sickle cells do have reduced deformability and increased fragility, the primary issue is not osmotic fragility but rather mechanical fragility due to the sickling phenomenon.
**Option C:** Thalassemia is a group of disorders characterized by reduced or absent production of one or more globin chains, leading to ineffective erythropoiesis and hemolysis. While thalassemic red blood cells may exhibit some abnormalities in shape and membrane function, increased osmotic fragility is not a defining feature of this disorder.
**Option D:** Iron deficiency anemia is characterized by a decrease in hemoglobin production due to inadequate iron availability. While red blood cells in iron deficiency anemia may exhibit some abnormalities in shape and size, increased osmotic fragility is not a characteristic feature of this disorder.
**Clinical Pearl / High-Yield Fact**
Hereditary spherocytosis is often associated with other congenital abnormalities, such as jaundice, splenomegaly, and gallstones, due to the chronic hemolysis and increased bilirubin production.
**β Correct Answer: A. Hereditary spherocytosis**