True about sickle anemia is –
**Core Concept**
Sickle cell anemia is a genetic disorder caused by a point mutation in the HBB gene, leading to the production of abnormal hemoglobin (HbS). This results in the formation of sickle-shaped red blood cells, which are prone to hemolysis and vaso-occlusive crises.
**Why the Correct Answer is Right**
The correct answer is related to the pathophysiology of sickle cell anemia. In this condition, the HbS polymerizes under low oxygen conditions, causing the red blood cells to become rigid and take on a sickle shape. This leads to vaso-occlusion, inflammation, and tissue damage. The polymerization of HbS is mediated by the interaction between hydrophobic amino acids on the surface of the HbS molecule, which is facilitated by the presence of deoxyhemoglobin.
**Why Each Wrong Option is Incorrect**
**Option A:** Sickle cell anemia is caused by a deficiency of vitamin B12. This is incorrect because sickle cell anemia is caused by a point mutation in the HBB gene, not a deficiency of vitamin B12.
**Option B:** Sickle cell anemia is characterized by the production of normal hemoglobin. This is incorrect because sickle cell anemia is characterized by the production of abnormal hemoglobin (HbS).
**Option C:** Sickle cell anemia is a type of thalassemia. This is incorrect because sickle cell anemia is a distinct genetic disorder caused by a point mutation in the HBB gene, not a type of thalassemia.
**Clinical Pearl / High-Yield Fact**
One key aspect of sickle cell anemia is the increased susceptibility to infections, particularly those caused by encapsulated bacteria such as Streptococcus pneumoniae and Haemophilus influenzae. This is due to the functional asplenia that occurs in many patients with sickle cell anemia.
**Correct Answer:** D.