Question

Which clinical phenotype is associated with an imbalance in the production of the α- and β-globin chains?

A Hemophilia
B Hemolytic anemia
C Sickle cell anemia
D Thalassemia
E Polycythemia

Answer 1

Thalassemia is the clinical phenotype associated with an imbalance in the production of α- and β-globin chains, resulting in abnormal hemoglobin synthesis and various health complications.

Step-by-step explanation:

The clinical phenotype associated with an imbalance in the production of the α- and β-globin chains is Thalassemia. This condition is characterized by a decreased synthesis rate of one of the globin chains. Specifically, β-thalassemia involves a reduced synthesis of β-chain of hemoglobin, leading to an imbalance where α-chains may form unstable aggregates, or bind inappropriately to other chains like gamma (γ) or delta (δ), increasing the levels of HbA2 and HbF. This impairs oxygen transport and causes hypoxia, anemia, and a reduced lifespan for the red blood cells. In the case of α-thalassemia, the synthesis of α-chains is reduced, which may lead to an excess of unbound β-chains that can form abnormal hemoglobin varieties such as β₄, β₂2δ2, or β2γ2.