Intrinsic cell wall defect of RBCs is feature of ?
Common intrinsic causes include hereditary spherocytosis, which is due to defects in the RBC membrane proteins like spectrin or ankyrin. This leads to spherocytes that can't pass through the spleen properly, causing hemolysis. Another intrinsic issue is G6PD deficiency, an enzyme problem. Thalassemias are genetic disorders affecting hemoglobin, so they're intrinsic too. Sickle cell disease is another intrinsic issue because of abnormal hemoglobin.
Now, extrinsic causes include autoimmune hemolytic anemia (like in lupus), where antibodies attack the RBCs. Also, mechanical damage like from a heart valve could cause extrinsic damage. So the question is looking for a disorder where the problem is in the RBC's own structure or enzymes.
The options aren't listed here, but the correct answer would be the one that's an intrinsic defect. Let's say the options were hereditary spherocytosis, G6PD deficiency, sickle cell anemia, and autoimmune hemolytic anemia. The correct answer would be hereditary spherocytosis because it's a structural membrane defect. The other options either are enzyme issues (G6PD) or extrinsic (autoimmune).
Wait, but G6PD is an enzyme deficiency, so it's intrinsic too. Oh, right, but the question is about cell wall (membrane) defects. So G6PD is an enzyme issue, not membrane. So the main membrane defects are hereditary spherocytosis, elliptocytosis, and stomatocytosis. So the correct answer would be hereditary spherocytosis. The other options like G6PD are intrinsic but not membrane-related. So the key is to distinguish between membrane defects and other intrinsic issues like enzyme or hemoglobin problems.
**Core Concept**
Intrinsic red blood cell (RBC) membrane defects are structural abnormalities within the RBC cytoskeleton or lipid bilayer, leading to impaired shape, flexibility, or lifespan. These disorders are hereditary and cause hemolytic anemia due to splenic sequestration of abnormal RBCs.
**Why the Correct Answer is Right**
Hereditary spherocytosis (HS) is the classic example of an intrinsic RBC membrane defect. It results from mutations in proteins like **spectrin**, **anion exchanger 1 (AE1)**, or **protein 4.2**, which destabilize the RBC membrane skeleton. This causes **spherocytes** (spherical RBCs) with reduced surface area-to-volume ratio, leading to splenic sequestration and hemolysis. HS is typically autosomal dominant and presents with anemia, jaundice, and gallstones.
**Why Each Wrong Option is Incorrect**
**Option A:** G6PD deficiency is an **enzyme defect** (X-linked), not a membrane defect. It impairs RBCs' ability to combat oxidative stress, causing hemolysis after oxidative insults.