In alpha-thalassemia, two genetic mutations are associated with which condition?

In alpha-thalassemia, two genetic mutations are associated with which condition?

• A. Regular blood transfusions
• B. No symptoms
• C. Alpha-thalassemia minor
• D. Alpha-thalassemia major

Answer: (C)

The main idea here is that how severe alpha-thalassemia is depends on how many alpha-globin gene copies are affected. When two alpha-globin gene deletions occur, the body makes less alpha-globin, but not zero, so the result is alpha-thalassemia trait (minor). This typically presents as mild microcytic anemia and often few symptoms, rather than a severe illness. That’s why two mutations align with alpha-thalassemia minor. For context, deleting three alpha-globin genes leads to HbH disease, a more serious condition, and deleting all four causes fetal hydrops and is life-threatening. A single deletion might be a silent carrier with no noticeable symptoms.

The main idea here is that how severe alpha-thalassemia is depends on how many alpha-globin gene copies are affected. When two alpha-globin gene deletions occur, the body makes less alpha-globin, but not zero, so the result is alpha-thalassemia trait (minor). This typically presents as mild microcytic anemia and often few symptoms, rather than a severe illness. That’s why two mutations align with alpha-thalassemia minor.

For context, deleting three alpha-globin genes leads to HbH disease, a more serious condition, and deleting all four causes fetal hydrops and is life-threatening. A single deletion might be a silent carrier with no noticeable symptoms.