**Core Concept**
Beta thalassemia is a genetic disorder caused by mutations in the HBB gene, which codes for the beta-globin subunit of hemoglobin. This condition leads to reduced or absent production of the beta-globin chains, resulting in various degrees of hemoglobinopathy.
**Why the Correct Answer is Right**
The most common mutation in Beta thalassemia is a point mutation in the HBB gene, specifically a C-T transition at nucleotide 38 (codon 6/92) in the beta-globin gene. This mutation leads to the substitution of glutamic acid with valine at position 6 of the beta-globin chain, resulting in a non-functional beta-globin protein. The resulting hemoglobin is unable to bind oxygen, leading to anemia and other complications in beta thalassemia patients.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect as it does not specify a known mutation in the HBB gene associated with Beta thalassemia.
**Option B:** This option is incorrect as it refers to a mutation in the alpha-globin gene, which is associated with alpha thalassemia, not Beta thalassemia.
**Option C:** This option is incorrect as it is a general term for mutations in the HBB gene, but does not specify a particular mutation.
**Clinical Pearl / High-Yield Fact**
The C-T transition at nucleotide 38 is the most common mutation in Beta thalassemia, accounting for approximately 70-80% of all Beta thalassemia cases.
**Correct Answer:** C. A C-T transition at nucleotide 38 in the beta-globin gene.
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
Access thousands of free MCQs, ebooks and daily exams.
By signing in you agree to our Privacy Policy.