Sickle Cell Disease

Which genetic mutation is responsible for sickle cell disease?

• Autosomal dominant mutation in the α-globin gene

• Autosomal recessive mutation in the β-globin gene

• X-linked mutation in the γ-globin gene

• Mitochondrial mutation in the δ-globin gene

Which type of hemoglobin is less likely to sickle in sickle cell disease?

• Hemoglobin A (HbA)

• Hemoglobin S (HbS)

• Hemoglobin F (HbF)

• Hemoglobin C (HbC)

What is the primary cause of pain in vaso-occlusive crisis (VOC) in sickle cell disease?

• Increased RBC production

• Blocked blood flow leading to ischemia

• Excessive iron absorption

• Decreased bilirubin levels

Which of the following is a common complication of sickle cell disease due to repeated ischemia?

• Hyperthyroidism

• Organ damage

• Diabetes mellitus

• Asthma

Which laboratory finding is most characteristic of sickle cell disease?

• Increased hemoglobin and hematocrit

• Sickle cells visible on peripheral smear

• Decreased reticulocyte count

• Increased platelet count

Which medication is used in chronic management of sickle cell disease to increase fetal hemoglobin (HbF) and reduce VOCs?

• Hydroxyurea

• Aspirin

• Metformin

• Warfarin

What is the main purpose of iron chelation therapy in sickle cell disease?

• To increase RBC production

• To treat transfusion-related iron overload

• To reduce pain crises

• To prevent infections

Which of the following is a newer drug that inhibits HbS polymerization in sickle cell disease?

• Endari (glutamine)

• Oxbryta (voxelotor)

• Hydroxyurea

• Folic acid

Why is splenectomy often done by age 5 in patients with sickle cell disease?

• Due to splenic underactivity

• Due to splenic overactivity

• Due to liver dysfunction

• Due to kidney failure

A patient with sickle cell disease is advised to avoid iron-rich foods if they are on chronic transfusions. What is the reason for this recommendation?

• To prevent anemia

• To avoid iron overload

• To increase hemoglobin levels

• To reduce pain crises