What type of mutation causes sickle cells disease?

Answer 1

Sickle cell anemia is an inherited disease. People who have the disease inherit two copies of the sickle cell gene-one from each parent. The sickle cell gene causes the body to make abnormal hemoglobin. Hemoglobin is the iron-rich protein that gives blood its red color and carries oxygen from the lungs to the rest of the body. In sickle cell anemia, the hemoglobin sticks together when it delivers oxygen to the body's tissues. These clumps of hemoglobin are like liquid fibers. They cause the red blood cells to become stiff and shaped like a sickle, or "C." The sickled red blood cells tend to stick together and get caught in the blood vessels. (Other cells also may play a role in this process.) Two copies of the sickle cell gene are needed for the body to make the abnormal hemoglobin found in sickle cell anemia.

Answer 2

Sickle Cell Disease (SCD) is a genetic blood disorder. The disease is inherited from two carriers, mother and father; it requires two abnormal genes, one from each parent that is passed along to future generations. This disease turns normal round blood cells into misshaped cells; SCD effects the formation of red blood cells making them unable to flow normally, which leads to health complications and damaged organs.

In Sickle Cell, the red blood cells are deformed, forming a sickle-like/crescent shape. This abnormality is just part of the disease; its irregular shape interferes with blood flow as the cells jam-up when passing through blood capillaries. These deformed cells become sticky; and the clump together causing blockages. As the blockage slows the blood flow, it denies oxygen and nutrients to the body's organs and the brain, which can cause brain damage. SCD can cause acute pain in limbs (bones and joints) and in the body's organs. Individuals with sickle cell often die at an early age; SCD can cause a stroke, Heart disease, and renal failure. Sickle cell can cause serious damage to any organ; liver, kidney, spleen..., and it can be life threatening.

There are variations of Sickle Cell Disease, but ultimately in all variations of SCD the blood cells are mutated (basic info):

Sickle cell trait (HbAS), people with this trait have inherited only one defective gene and they live a relatively normal life.

Sickle Cell Anemia (HbSS), these people have a specific form of SCD; Sickle Cell Anemia is the most common form of the disease, and considered to be the most serious. You may see it listed as SCA, or SCD - HbSS.

Sickle Cell hemoglobin S beta-thalassemia (HbS/Th or HbS/ßTh), those with this form of SCD have inherited both thalassemia genes, which prevents them from producing enough beta proteins. The symptoms of this form are more severe than the verity HbSC (below). The anemia with this form is milder than with other variations of SCD, but generally, suffers do not experience other SCD symptoms, as seriously.

Sickle Cell hemoglobin E (HbSE), those with this variation of SCD are most often of Southeast Asian descent. There may be NO symptoms, but they can suffer from fatigue, iron deficiency, infections, hypoxia, and anemia (mild to moderate).

Sickle Cell hemoglobin SC (HbSC), those with this variation of Sickle Cell Disease have two different genes, a copy of HbS and HbC. Symptoms can develop as they age; anemia (mild to moderate), and some of the symptoms can resemble those with HbSS, but in a milder form. Those with this variation are at serious risk for infection.

Answer 3

sickle-cell disease is caused by a substitution mutation

Answer 4

Mutations in the HBB gene cause sickle cell disease.

Answer 5

Point mutation

Answer 6

insertion