the mutation which causes sickle cell disease can be classified as course hero

by Orville King 10 min read

What Causes Sickle Cell Anemia?

How Is Sickle Cell Anemia Inherited?

  • Sickle cell anemia is caused by a mutation in the HBB gene responsible for producing the beta-subunit of hemoglobin, inherited from one or both parents. There can be multiple mutations in the HBB gene, which, when inherited, can cause a different severity of the disease.4 The normal gene is called hemoglobin A gene. The abnormal sickle cell gene is...
See more on verywellhealth.com

Frequency

  • Sickle cell anemia is most often found in people of African descent, but can also be found in people whose ancestors were from:4 1. Mediterranean countries, such as Greece, Turkey, and Italy 2. India 3. Saudi Arabia 4. South America 5. Central America 6. Caribbean
See more on verywellhealth.com

Diagnosis

  • Sickle cell anemia is often diagnosed in a newborn, as part of the blood work done in newborn screening tests.9This testing is routine for newborns in every U.S. state and the District of Columbia. It detects both sickle cell anemia and sickle cell trait. An adult can be evaluated for sickle cell anemia through a test called hemoglobin electrophoresis. This test evaluates the type…
See more on verywellhealth.com

Treatment

  • The only potential cure for sickle cell anemia is abone marrow transplant, though this is mostly reserved for people who are critically ill with the disease. There are other treatment options for the disease and its symptoms. An oral medication called Oxbryta (voxelotor) is available, which works by preventing the red blood cells from forming into the sickle shape. This medication can also in…
See more on verywellhealth.com

Summary

  • Sickle cell anemia is a hereditary genetic disorder in which a mutated gene produces abnormal hemoglobin. The hemoglobin forms rigid strands that cause the normally round red blood cells to form a sickle shape. This shortens the cells' life span, leading to anemia. Because of their shape, the sickle cells also have difficulty moving through small blood vessels, which can result in com…
See more on verywellhealth.com

A Word from Verywell

  • Sickle cell anemia is a diagnosis that can come with a lot of stress and lifelong medical follow-ups. Keeping up with your healthcare visits and treating symptoms are important to feel as well as possible. It can be overwhelming, but staying on top of your health can help prevent complications and keep you out of the hospital.
See more on verywellhealth.com