What is the genetic inheritance pattern of sickle cell disease?

Sickle cell disease follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene (one from each parent) to exhibit the disease. The gene responsible for sickle cell disease codes for the beta-globin subunit of hemoglobin. When a mutation occurs in this gene, it causes the production of abnormal hemoglobin, leading to sickle-shaped red blood cells that can obstruct blood flow and lead to various complications.

For individuals who inherit only one copy of the mutated gene, they are considered carriers (sickle cell trait) but typically do not show symptoms of the disease. This specific inheritance pattern highlights the importance of both parents having the gene mutation for their children to potentially be affected by sickle cell disease. Understanding this genetic mechanism is crucial for genetic counseling and assessing risks in families with a history of the disease.