Researchers Correct Sickle Cell Disease in Adult Mice: Protein Could Be a Target for Treating People Who Have

the Blood Disorder

What Is Sickle Cell Anemia?

is a serious disorder in which the body makes sickle-shaped red blood cells. Sickle-shaped means that the red blood cells are shaped like a crescent. Normal red blood cells are disc-shaped and look like doughnuts without holes in the center. They move easily through your blood vessels. Red blood cells contain an iron-rich protein. This protein carries oxygen from the lungs to the rest of the body. Sickle cells contain abnormal hemoglobin called sickle hemoglobin or hemoglobin S. Sickle hemoglobin causes the cells to develop a sickle, or crescent, shape. Sickle cells are stiff and sticky. They tend to block blood flow in the blood vessels of the limbs and organs. Blocked blood flow can cause pain, serious infections, and organ damage.

Living With It

People living with sickle cell disease have two copies of an altered gene that produces sickle hemoglobin instead of normal adult hemoglobin. Pain episodes are the most common complication of sickle cell disease. You are born with born with it. It is a gene past down through generations.

Research

The research team silenced the mouse gene that produces the BCL11A protein in mice with sickle cell disease. Silencing the gene turned off production of the BCL11A protein and allowed the adult mice to continue to produce fetal hemoglobin. It appears to have eliminated disease symptoms without affecting other aspects of blood production.

Current Study

The current study explores a more targeted approach to increasing fetal hemoglobin production. It builds upon earlier studies which discovered that a protein called BCL11A normally suppresses the production of fetal hemoglobin soon after birth. The researchers viewed the BCL11A protein as a target for therapy and decided to see what would happen if they blocked production of the protein.

What the cells look like

This means that for two adults with sickle cell trait, for each pregnancy there is: 25 percent chance of having a child with sickle cell anemia 25 percent chance of having a child with neither sickle cell trait nor SCD 50 percent risk of having a child with sickle cell trait Patients with sickle cell trait usually show no symptoms and do not have the clinical complications seen in patients with sickle cell disease.

Facts:

Approximately 100,000 Americans live with sickle cell disease. It is most prevalent in people of African, Hispanic, Mediterranean, and Middle Eastern descent. There is no widely available cure for sickle cell disease. Bone marrow transplants have cured some patients, but the treatment is not without risk. Most patients do not have relatives who can donate compatible and healthy bone marrow to them. Because the disease is given to you through your family.

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