THALASSEMIA

Question 1

Which classification of β-thalassemia is associated with heterozygosity for β⁰ or β⁺ thalassemia mutations and may present with normal HbA₂ and red cell indices?
A) Non-transfusion-dependent β-thalassemia
B) β-Thalassemia trait
C) HbE-β thalassemia
D) δβ Thalassemia and hemoglobin Lepore

Answer 1

Answer:
B) β-Thalassemia trait
Rationale: This condition is characterized by heterozygosity for β⁰ or β⁺ mutations, and “silent” carriers may have normal HbA₂ and red cell indices.

Question 2

Which type of β-thalassemia is defined by an infrequent or no transfusion requirement?
A) β-Thalassemia trait
B) HbE-β thalassemia
C) Non-transfusion-dependent β-thalassemia
D) Transfusion-dependent β-thalassemia

Answer 2

Answer:
C) Non-transfusion-dependent β-thalassemia (thalassemia intermedia)
Rationale: This condition includes various genotypes such as homozygosity for mild β⁺ mutations and combinations of β and α thalassemia, leading to a reduced but not absent transfusion requirement.

Question 3

Which condition is common in Southeast Asian populations and involves HbE and HbF?
A) Gene deletion HPFH
B) HbE-β thalassemia
C) δβ Thalassemia and hemoglobin Lepore
D) Transfusion-dependent β-thalassemia

Answer 3

Answer:
B) HbE-β thalassemia
Rationale: This is a common condition in Southeast Asian populations, with HbE and HbF present in varying amounts, and transfusion dependence depends on the β-thalassemia mutation.

Question 4

Which classification of β-thalassemia involves large deletions removing the δ- and β-globin genes, leading to 100% HbF in homozygotes?
A) Gene deletion HPFH
B) HbE-β thalassemia
C) Transfusion-dependent β-thalassemia
D) β-Thalassemia trait

Answer 4

Answer:
A) Gene deletion HPFH
Rationale: Homozygotes for this condition are asymptomatic and have 100% HbF due to large deletions removing δ- and β-globin genes.

Question 5

Which β-thalassemia classification is associated with fusion globin chains and hemoglobin levels around 11 g/dL in homozygotes?
A) β-Thalassemia trait
B) δβ Thalassemia and hemoglobin Lepore
C) HbE-β thalassemia
D) Transfusion-dependent β-thalassemia

Answer 5

Answer:
B) δβ Thalassemia and hemoglobin Lepore
Rationale: This condition is due to deletions in the δ- and β-globin genes, leading to fusion globin chains. Homozygotes have 100% HbF and hemoglobin levels around 11 g/dL.