Beta-thalassemia major typically becomes symptomatic around 6 months of age. Which statement is true?

Beta-thalassemia major typically becomes symptomatic around 6 months of age. Which statement is true?

• A. Becomes symptomatic around 6 months of age
• B. Presents at birth with severe anemia
• C. Only occurs in adults
• D. Is asymptomatic always

Answer: (A)

Beta-thalassemia major shows up after fetal hemoglobin declines and newborn protection fades. Newborns have high levels of HbF, which masks the beta-globin defect, so they often seem normal at birth. As HbF decreases and ineffective beta-globin production becomes evident, the anemia worsens, typically becoming clinically apparent around six months of age. That timing is the reason this choice is true. Presents at birth with severe anemia is not typical for the same reason—HbF temporarily cushions the defect. It does not occur only in adults, since affected infants can present. It is not asymptomatic always, because the hallmark is the transition from a relatively quiet newborn period to significant anemia after HbF falls.

Beta-thalassemia major shows up after fetal hemoglobin declines and newborn protection fades. Newborns have high levels of HbF, which masks the beta-globin defect, so they often seem normal at birth. As HbF decreases and ineffective beta-globin production becomes evident, the anemia worsens, typically becoming clinically apparent around six months of age. That timing is the reason this choice is true.

Presents at birth with severe anemia is not typical for the same reason—HbF temporarily cushions the defect. It does not occur only in adults, since affected infants can present. It is not asymptomatic always, because the hallmark is the transition from a relatively quiet newborn period to significant anemia after HbF falls.