Which of the following is referred to as a qualitative hemoglobinopathy?
A) hemoglobin H disease
B) hydrops fetalis
C) sickle cell anemia
D) a-thalassemia
E) b-thalassemia

Question

Quizplus · Accepted Answer

Sickle cell anemia is a qualitative hemoglobinopathy because it involves a structural abnormality in the hemoglobin molecule, specifically a mutation in the beta-globin chain, leading to the production of abnormal hemoglobin S.  Sickle cell anemia results from a single nucleotide mutation in the b-globin gene resulting in a single amino acid change in the protein. There is no effect of this mutation on the amount (quantitative) of the mutant b-globin protein. The defect is manifest in a change in the character (qualitative) of the resultant b-globin protein. When in the deoxy state, this hemoglobin sticks together resulting in long polymers that distort the shape of the erythrocyte.

Which of the Following Is Referred to as a Qualitative