Thalassemias are produced as a result of:
A) Quantitative defects in globin chain synthesis
B) Qualitative defects in globin chain synthesis
C) Structural defects in heme synthesis
D) Molecular defects in hemoglobin synthesis

Question

Quizplus · Accepted Answer

Thalassemias are a group of inherited disorders that result from quantitative defects in globin chain synthesis, either reduced or absent production of one or more alpha or beta globin chains. This leads to an imbalance of alpha and beta chains and results in abnormal hemoglobin synthesis and red blood cell (RBC) structure, causing hemolytic anemia. Qualitative defects in globin chain synthesis (choice B) like sickle cell anemia result in structurally abnormal hemoglobin, not a quantitative defect. Structural defects in heme synthesis (choice C) can lead to porphyrias and not thalassemias. Molecular defects in hemoglobin synthesis (choice D) are too broad and can include both qualitative and quantitative defects, not specific to thalassemias only.

Thalassemias Are Produced as a Result Of