Which gene is primarily associated with Sickle Cell Disease?

The gene primarily associated with Sickle Cell Disease is HBB. Sickle Cell Disease is caused by a mutation in the HBB gene, which encodes the beta-globin subunit of hemoglobin. This mutation leads to the production of abnormal hemoglobin known as hemoglobin S (HbS). When oxygen levels are low, this abnormal hemoglobin can cause red blood cells to deform into a sickle shape, which can lead to a range of health complications including pain, anemia, and increased risk of infection.

Understanding the role of HBB in Sickle Cell Disease is crucial for genetic counseling and management of the condition, as it highlights how genetic mutations can directly impact health. The other genes listed, such as HBA1 and HBA2, are associated with alpha-globin production and are not implicated in Sickle Cell Disease itself, while CFTR is related to cystic fibrosis, which is entirely different from Sickle Cell Disease. Thus, knowing that HBB is the specific gene linked to this disorder is essential for anyone involved in genetics or genetic counseling.