Sickle Cell Disease

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Sickle Cell Disease

Sickle Cell Disease (pronunciation: SIK-uhl sel dis-EEZ) is a group of inherited red blood cell disorders. People with Sickle Cell Disease have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their red blood cells.

Etymology

The term "sickle" is derived from the Old English "sicol" meaning a short sword with a curved blade. The disease is named so due to the sickle-like shape of the affected red blood cells.

Definition

Sickle Cell Disease is a genetic disorder that affects the hemoglobin within the red blood cells. The condition causes the normally round and flexible red blood cells to become rigid and sickle-shaped, impeding their ability to carry and deliver oxygen to the body's tissues.

Symptoms

Symptoms of Sickle Cell Disease can vary and range from mild to severe. They may include anemia, episodes of pain, frequent infections, delayed growth, and vision problems.

Causes

Sickle Cell Disease is caused by a mutation in the gene that instructs the body to make hemoglobin. The disease is inherited, meaning that it is passed down through families. If both parents carry the sickle cell trait, there is a 25% chance their child will have Sickle Cell Disease.

Diagnosis

Diagnosis of Sickle Cell Disease typically involves a blood test to check for the presence of hemoglobin S. Additional tests such as a complete blood count (CBC) and genetic testing may also be performed.

Treatment

While there is no cure for Sickle Cell Disease, treatments can help manage symptoms and complications. These may include medications, blood transfusions, and in some cases, a bone marrow transplant.

Related Terms

External links

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