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What is sickle cell syndrome?

Sickle cell syndrome is a group of inherited diseases caused by a mutation in a blood protein called haemoglobin. The mutation leads to changes in the shape and behaviour of red blood cells. They become hard, sticky and shaped in the form of a sickle (the sharp hooks used to cut the wheat). This causes small blood clots that block blood flow, and cause repeated painful episodes, called crisis. In the long run, this causes severe damage to the organs in the body. The clinical picture of patients with sickle cell syndrome can be remarkably different. Some patients remain virtually without complaints, while others suffer repeated crises requiring admission to hospital from early childhood. The prototype disease in the sickle cell syndrome group, is the sickle cell anaemia, which is at the same time the most common and severe in the group.

Sickle cell anemia

Sickle cell anemia ( Also called: Hemoglobin SS disease or drepanocytosis ) is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.

A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait.

The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet.

A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.

Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines.

More about sickle cell anemia

Sickle cell anemia

Sources: Pr Frédéric GALACTEROS MD. Orphanet  /  Genetics Home Reference

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.