Thalassemia

What is the typical serum iron level in iron deficiency anemia?

• Normal

• >100 μg/dL

• 60-100 μg/dL

• <60 μg/dL

What is the most common cause of α-thalassemia?

• Chain termination mutation

• Gene duplication

• Splicing mutation

• Gene deletion

Answer explanation

Beta will have a movie relation

What is the most common cause of β+ thalassemia?

• Gene deletion

• Chain termination mutation

• Gene duplication

• Splicing mutation

Answer explanation

Splicing will lead to formation but this weird Hb that was not intended initially

What is the most common cause of β0 thalassemia?

• Chain termination mutation

• Splicing mutation

• Gene duplication

• Gene deletion

Answer explanation

Terminator will kill I.e. 0

Hb Barts is usually associated with which condition?

• High fetal hemoglobin

• Mild anemia

• Normal hemoglobin

• Severe microcytic anemia

Answer explanation

BART is even worse than Homer

But both are alphas

What does the genotype (--/--) of α-thalassemia usually lead to?

• Normal hemoglobin

• Severe microcytic anemia

• Mild anemia

• Asymptomatic

Answer explanation

What is the major β-thalassemia?

• Transfusion dependent

• Non-transfusion dependent

• Iron supplementation

• No treatment

What does the genotype (a-/--) of α-thalassemia usually lead to?

• Mild anemia

• Normal hemoglobin

• Asymptomatic

• HbH disease

What is the usual presentation of mild β-thalassemia?

• Mild microcytic anemia

• Severe anemia

• High methemoglobin

• Normal hemoglobin

What is the genotype of an asymptomatic carrier of alpha thalassemia?

• (a a/a -)

• (a-/--)

• (--/--)

• (a a/a a)