What Causes Sickle Cell Anemia?

Sickle cell anemia

Sickle cell anemia is a genetic disorder caused by a specific mutation in the hemoglobin gene, which leads to the production of abnormal hemoglobin, known as hemoglobin S (HbS). This abnormal hemoglobin causes red blood cells to become misshapen and less flexible, taking on a characteristic “sickle” or crescent shape instead of the normal, round shape of healthy red blood cells. This altered shape of red blood cells can lead to a range of health problems.

Here is an overview of the genetic cause and inheritance pattern of sickle cell anemia:

  • Genetic Mutation: Sickle cell anemia is caused by a mutation in the HBB gene, which provides instructions for making the beta-globin protein, a component of hemoglobin. This mutation results in the replacement of a single amino acid in the beta-globin chain of hemoglobin, leading to the production of hemoglobin S (HbS).
  • Autosomal Recessive Inheritance: Sickle cell anemia follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated HBB gene (one from each parent) to develop the disorder. People who inherit one normal HBB gene and one mutated HBB gene are considered carriers or “trait” carriers of sickle cell anemia. They do not have the disease but can pass the mutated gene to their children.
  • Heterozygous vs. Homozygous: Individuals who inherit two normal HBB genes (one from each parent) have normal hemoglobin and are not affected by sickle cell disease or trait. Those who inherit two mutated HBB genes (one from each parent) have sickle cell anemia, and their red blood cells will primarily contain hemoglobin S.
  • Sickle Cell Trait: Individuals who inherit one normal HBB gene and one mutated HBB gene have sickle cell trait. They typically do not experience the symptoms and complications of sickle cell anemia, but they can pass the mutated gene to their offspring. In some cases, individuals with sickle cell trait may experience mild symptoms under certain conditions of extreme physical exertion, high altitudes, or low oxygen levels.

Sickle cell anemia is most commonly found in individuals of African, Mediterranean, Middle Eastern, and Indian descent. It is more prevalent in regions where malaria is or was endemic because having one copy of the HbS gene (sickle cell trait) can provide some protection against malaria. As a result, the HbS gene became more common in these regions over time.

Treatment and management of sickle cell anemia focus on relieving symptoms and preventing complications. This may include medications, blood transfusions, and bone marrow or stem cell transplants for severe cases. Early diagnosis through newborn screening programs and ongoing medical care can significantly improve the quality of life for individuals with sickle cell anemia.

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