Sickle-cell disease

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Sickle-cell disease

Sickle-cell disease (pronunciation: /ˈsɪkəl sɛl dɪˈziːz/) is a group of blood disorders typically inherited from a person's parents. The most common type is known as sickle-cell anemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells.

Etymology

The term "sickle-cell" comes from the sickle-like shape of the red blood cells under certain conditions. The term "anemia" is derived from the Ancient Greek word "anaimia", meaning lack of blood.

Symptoms

Symptoms of sickle-cell disease usually begin in early childhood. Characteristic features of this disorder include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms can vary from person to person. Some people have mild symptoms, while others are frequently hospitalized for more serious complications.

Causes

Sickle-cell disease is caused by a mutation in the HBB gene. This gene provides instructions for making a protein called beta-globin, which is a component of hemoglobin. The mutation in the HBB gene is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to be affected by the disease.

Treatment

Treatment of sickle-cell disease typically involves the management of symptoms and prevention of complications. This may include pain management, blood transfusions, and preventative antibiotics. In some cases, a bone marrow transplant may be an effective cure.

Related terms

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