MRCP UK EXAMINATIONS

ABDOMINAL

THALASSEMIA

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
Abnormalities in the promoter region of the
A
True
B
False
C
Either A or B
D
None of the above
Explanation: 

Detailed explanation-1: -Beta thalassemia is the result of deficient or absent synthesis of beta globin chains, leading to excess alpha chains. Beta globin synthesis is controlled by one gene on each chromosome 11. Beta thalassemia occurs from any of more than 200 point mutations and (rarely) deletions of the two genes.

Detailed explanation-2: -Beta thalassemia is caused by damaged or missing genes. Two specific genes are involved. There are several types of this disorder: Beta thalassemia major (Cooley’s anemia).

Detailed explanation-3: -Beta thalassemia is caused by mutations in the hemoglobin beta (HBB) gene. Individuals with beta thalassemia minor have a mutation in one HBB gene, while individuals with the intermediate and major forms have mutations in both HBB genes.

There is 1 question to complete.