What is the inheritance pattern of sickle cell anemia?

Sickle cell anemia follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to express the disease. In the case of sickle cell anemia, the mutation affects the HBB gene, which encodes the beta-globin subunit of hemoglobin. When both alleles are mutated, the hemoglobin produced is abnormal, leading to the characteristic sickle-shaped red blood cells, which can cause various complications.

In autosomal recessive conditions, carriers (those with only one copy of the mutated gene) typically do not exhibit symptoms of the disease, as their normal allele compensates for the defective one. However, they can pass the mutated gene to their offspring, making it important to understand family history and genetic counseling for those who carry the sickle cell trait. This inheritance pattern highlights key aspects such as the roles of both parents in contributing to the trait and the potential for passing it on to the next generation.