Sickle Cell Disease Research Paper

Where is the gene located?

Sickle-cell disease is most common among African-Americans and Hispanic people. This disease is caused by a mutation found in the Haemoglobin-Beta gene found on chromosome 11.

What is the alteration to the genetic code that causes the disease?

In everyone’s body, there are two copies of the haemoglobin gene in every cell in their body – one from the father and one from the mother. When eggs and sperm are made, only one of the two genes goes into each egg or sperm cell. Therefore, the genes the baby will receive will depend on the genes carried by its parents. Sickle cell disease is a recessive condition because you must have to copies of the sickle haemoglobin gene to have the disorder. Sickle haemoglobin is often

If both parents have the sickle cell trait, there is 25% that any given child could be born with sickle cell disease.

How is protein production affected?

Sickle cell disease affects the red blood cells, which transport protein (haemoglobin) o transport oxygen from the lungs to the rest of the body. Normally, red blood cells are soft and flexible making it easier to move around the body, however, with sickle cell disease, the cells become crescent like shaped – making it difficult to move around the

In order to check for sickle cell disease, a blood sample is drawn from a vein in the arm or collected from a finger or heel. The sample collected, is then sent to the labs where it's screened for haemoglobin S - the defective form of haemoglobin that underlies sickle cell disease. If the screening is negative, there is no sickle cell gene present, therefore no further screening is needed. If the screening is positive, further tests are needed to determine whether one or two sickle cell genes are present.

Under conditions such as high elevation and intense exercise, a carrier of the sickle cell disease may occasionally show symptoms such as pain and fatigue.

Carriers of the sickle cell disease are resistant to malaria, because the parasites that cause this disease are killed inside sickle-shaped blood cells.

How is the disease treated?

If you have sickle cell disease, it is important to make regular visits to your doctor to check your red blood cell count and monitor your health. Medications may also be prescribed to reduce pain, prevent complications, there may be blood transfusions and supplemental oxygen. Medications include Antibiotics, Pain-relieving medications and Hydroxyurea (Droxia, Hydrea). Bone marrow transplant offers the only potential cure for sickle cell disease. But finding a donor is difficult and the procedure has serious risks associated with it, including