In alpha-thalassemia, four genetic mutations lead to which outcome?

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Multiple Choice

In alpha-thalassemia, four genetic mutations lead to which outcome?

Explanation:
When all alpha-globin genes are deleted, no alpha chains are produced to team up with the other globin chains. In the fetus, gamma chains predominate and form Hb Bart’s (gamma4), which binds oxygen very tightly and can’t release it to tissues. This causes severe fetal anemia and fluid buildup around organs (hydrops fetalis), typically leading to death before birth or shortly after. That outcome is alpha-thalassemia major, the most severe form. Less severe deletions cause milder problems, so four deletions specifically point to this fatal major form.

When all alpha-globin genes are deleted, no alpha chains are produced to team up with the other globin chains. In the fetus, gamma chains predominate and form Hb Bart’s (gamma4), which binds oxygen very tightly and can’t release it to tissues. This causes severe fetal anemia and fluid buildup around organs (hydrops fetalis), typically leading to death before birth or shortly after. That outcome is alpha-thalassemia major, the most severe form. Less severe deletions cause milder problems, so four deletions specifically point to this fatal major form.

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