Questions and Answers
What is the main cause of sickle cell anemia?
Single substitution of valine for glutamic acid in hemoglobin chains
What is the difference between hemoglobinopathies and thalassemias?
Hemoglobinopathies result in abnormal hemoglobin chains, while thalassemias result in decreased production of normal hemoglobin chains
What happens to red blood cells in sickle cell anemia?
They lose their deformability and hemolyze easily
Study Notes
Sickle Cell Anemia
- Sickle cell anemia is caused by a mutation in the HBB gene that codes for hemoglobin subunit beta, leading to the production of abnormal hemoglobin (HbS).
Hemoglobinopathies and Thalassemias
- Hemoglobinopathies, such as sickle cell anemia, are inherited disorders caused by mutations in the genes that code for hemoglobin subunits, resulting in abnormal hemoglobin production.
- Thalassemias, on the other hand, are inherited disorders caused by mutations in the genes that regulate hemoglobin production, leading to a deficiency in one or more hemoglobin subunits.
Red Blood Cells in Sickle Cell Anemia
- In sickle cell anemia, red blood cells contort into a sickle shape due to the abnormal hemoglobin (HbS), leading to a reduced lifespan of only 10-20 days (normal lifespan is 120 days).
- Sickled red blood cells are prone to clotting and can block small blood vessels, causing pain, infections, and organ damage.
- The abnormal shape of sickled red blood cells also reduces their ability to carry oxygen, leading to anemia and fatigue.
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