Sickle cell disease is a genetic blood disorder caused by a mutation in the HBB gene, leading to the production of abnormal hemoglobin known as hemoglobin S. This disease affects red blood cells, causing them to become rigid and shaped like a sickle, which can block blood flow and lead to severe pain and various health complications. Understanding its genetic basis is crucial in rare disease genomics and variant interpretation, as it highlights the importance of identifying mutations and their impacts on health.
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