What are the genetic underpinnings of sickle cell anemia?
Understand the Problem
The question is asking for a multiple-choice question that encompasses sickle cell anemia with a focus on its genetic basis, including what mutations or genetic factors contribute to the disease.
Answer
A mutation in both copies of the HBB gene.
The final answer is a mutation in both copies of the HBB gene.
Answer for screen readers
The final answer is a mutation in both copies of the HBB gene.
More Information
Sickle cell disease is caused by a specific genetic mutation in the HBB gene, leading to the production of abnormal hemoglobin known as hemoglobin S (HbS). This change alters the shape of red blood cells, making them sickle-shaped and less efficient in oxygen transport.
Sources
- Fixing Sickle Cell Disease Gene - NIH Research Matters - nih.gov
- Sickle Cell Disease—Genetics, Pathophysiology, Clinical - NCBI - ncbi.nlm.nih.gov
- Sickle cell disease: MedlinePlus Genetics - medlineplus.gov
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