Sickle Cell Disease | Pathophysiology, Symptoms and Treatment

The video provides a comprehensive overview of sickle cell disease, a hereditary blood disorder characterized by sickle-shaped red blood cells. It explains the genetic basis, including its incomplete autosomal dominant inheritance, and the prevalence among African Americans. The pathophysiology is detailed, focusing on the mutation in the beta globin chain of hemoglobin. The video also covers the acute and chronic complications, such as anemia and vaso-occlusion, and discusses diagnostic methods and treatments like hydroxyurea and hematopoietic cell transplantation.

What is the inheritance pattern of sickle cell disease?

• Complete autosomal dominant

• Mitochondrial

• Incomplete autosomal dominant

• X-linked recessive

Which population is most affected by homozygous sickle cell disease?

• Asian Americans

• African Americans

• Hispanic Americans

• Caucasian Americans

Which amino acid substitution is responsible for sickle cell disease?

• Valine to glutamic acid

• Glutamic acid to valine

• Lysine to arginine

• Arginine to lysine

What is the average lifespan of a sickled red blood cell?

• 17 days

• 30 days

• 60 days

• 120 days

What condition is NOT a trigger for red blood cell sickling?

• Fever

• Hyperoxia

• Infection

• Dehydration

Which of the following is NOT a symptom of vaso-occlusion in sickle cell disease?

• Chronic leg ulcers

• Myocardial infarction

• Stroke

• Increased bone mineral density

Which of the following is a chronic complication of sickle cell disease?

• Acute chest syndrome

• Chronic hemolytic anemia

• Acute vaso-occlusive pain

• Renal infarction

What is the primary method used to diagnose sickle cell disease?

• MRI scan

• Hemoglobin electrophoresis

• CT scan

• Ultrasound

Which treatment is considered a potential cure for sickle cell disease?

• Pain management

• Hematopoietic cell transplantation

• Blood transfusion

• Hydroxyurea

What is the role of hydroxyurea in the treatment of sickle cell disease?

• Cures the disease

• Reduces episodes of acute pain

• Increases red blood cell lifespan

• Prevents all complications