MRCP UK EXAMINATIONS

ABDOMINAL

HEMOGLOBINOPATHY

Question [CLICK ON ANY CHOICE TO KNOW THE RIGHT ANSWER]
In some areas of South Africa many people have sickle cell disease characterized by red blood cells that assume an abnormal sickle shape due to the substitution of glutamic acid for valine in the hemoglobin molecule. What is the cause of this disease?
A
Transduction
B
Chromosomal aberration
C
Gene mutation
D
Crossing-over
Explanation: 

Detailed explanation-1: -SCD and SCT impact African Americans at disproportionate rates. This is because SCD and SCT are an evolutionary trait that people developed in response to help protect them from malaria. As such, this condition is common in large parts of Africa.

Detailed explanation-2: -People who have this form of SCD inherit two genes, one from each parent, that code for hemoglobin “S.” Hemoglobin S is an abnormal form of hemoglobin that causes the red cells to become rigid, and sickle shaped. This is commonly called sickle cell anemia and is usually the most severe form of the disease.

Detailed explanation-3: -The hemoglobin associated with sickle cell anemia causes red blood cells to become rigid, sticky and misshapen. For a child to be affected, both mother and father must carry one copy of the sickle cell gene-also known as sickle cell trait-and pass both copies of the altered form to the child.

There is 1 question to complete.