A single nucleotide change in a codon on chromosome 11 that causes valine to replace glutamic acid at the sixth position of the b chain of hemoglobin.peripheral blood film of the patient is given
First, I need to recall what this mutation signifies. Changing glutamic acid to valine at position 6 of the beta-globin gene is a classic mutation for sickle cell disease. Sickle cell anemia is caused by a point mutation in the HBB gene on chromosome 11. This results in hemoglobin S (HbS), where valine replaces glutamic acid.
The peripheral blood film in sickle cell disease typically shows sickle-shaped red blood cells. Other features might include target cells, Howell-Jolly bodies, and nucleated red blood cells due to hemolysis and ineffective erythropoiesis. So the correct answer would likely be an option that mentions sickle cells or related findings.
The options A-D aren't provided, but common distractors might include other conditions like thalassemia, which can have microcytic anemia, or hereditary spherocytosis with spherocytes. Another possibility is G6PD deficiency leading to Heinz bodies, but that's a different mutation.
So, the core concept is the mutation leading to sickle cell anemia and its blood film appearance. The correct answer is the one that mentions sickle-shaped RBCs. The incorrect options would be other hemoglobinopathies or conditions with different blood film findings.
**Core Concept**
A point mutation in the *HBB* gene on chromosome 11 replaces glutamic acid with valine at position 6 of the beta-globin chain, causing **sickle cell disease**. This leads to **HbS polymerization under hypoxia**, resulting in characteristic peripheral blood film findings.
**Why the Correct Answer is Right**
The mutation described creates **hemoglobin S (HbS)**, which forms rigid, sickle-shaped red blood cells (RBCs) during deoxygenation. Peripheral smear shows **sickle cells**, **target cells**, **Howell-Jolly bodies** (due to asplenia from chronic hemolysis), and **polychromasia** (ineffective erythropoiesis). These findings are pathognomonic for sickle cell disease.
**Why Each Wrong Option is Incorrect**
**Option A:** *Thalassemia* causes microcytic anemia with hypochromia and target cells, but no sickle-shaped RBCs.
**Option B:** *G6PD deficiency* leads to Heinz bodies and hemolysis, not sickling.
**Option C:** *Hereditary spherocytosis* presents with spherocytes, not sickle cells.
**Clinical Pearl / High-Yield Fact**
Remember: **"Sickle cell = sickle-shaped RBCs + target cells + Howell-Jolly bodies"**. A single nucleotide substitution (AβT) in the *HBB* gene is the most common cause of hemoglobinopathy worldwide. Differentiate from thalassemia (microcytic, hypochromic) and spherocytosis (spherocytes).
**Correct Answer: C