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Thalassemia: Alpha-Globin Gene Deletions

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5 Questions

What is the characteristic of a patient with one α-globin gene deleted?

No anemia and asymptomatic

Which of the following is a characteristic of Hgb H disease?

Severe anemia at birth with an elevated Hgb Bart’s

What is the result of four α-globin genes being deleted?

Fetal hydrops

α-Thalassemia minor is characterized by?

Mild anemia

How many α-globin genes are deleted in Hgb H disease?

Three

Study Notes

Thalassemia

  • A silent carrier has one α-globin gene deleted, resulting in no anemia and asymptomatic patients.
  • α-Thalassemia minor occurs when two α-globin genes are deleted, leading to mild anemia in patients.

α-Globin Gene Deletions

  • Deletion of three α-globin genes results in Hgb H disease, characterized by severe anemia at birth and an elevated Hgb Bart's.
  • Complete deletion of four α-globin genes leads to fetal hydrops.

Learn about the effects of alpha-globin gene deletions on thalassemia, including silent carriers, alpha-thalassemia minor, Hgb H disease, and fetal hydrops. Understand the severity of anemia and resulting symptoms.

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