Sickle Cell Anaemia

What is sickle cell anaemia?

Sickle cell anaemia is an inherited disorder that affects haemoglobin, a protein that enables red blood cells to carry oxygen to all parts of the body. The disorder produces abnormal haemoglobin, which causes the red blood cells to sickle or become crescent-shaped.

Sickle cell anaemia is characterised by a low number of red blood cells (anaemia), infection, and periodic episodes of pain, usually beginning in early childhood. Symptoms vary from person to person; some people have mild symptoms, while others are frequently hospitalized.

With this disorder, sickle-shaped red blood cells are destroyed rapidly, causing anaemia. anaemia can lead to shortness of breath, fatigue, and delayed growth and development in children. The rapid breakdown of red blood cells may also cause yellowing of the eyes and skin, which are signs of jaundice. Other symptoms of sickle cell anaemia occur when the stiff, inflexible sickled red blood cells get stuck in small blood vessels, depriving organs and tissues of oxygen-rich blood. A serious complication of sickle cell anaemia is high blood pressure in the blood vessels that supply the lungs (pulmonary hypertension). Pulmonary hypertension occurs in about one-third of adults with sickle cell disease and can lead to heart failure.

How common is sickle cell anaemia?

Sickle cell anaemia affects millions of people worldwide. It is particularly common among people whose ancestors come from Africa, Mediterranean countries (such as Greece, Turkey, and Italy), the Arabian peninsula, India, and Spanish-speaking regions (South America, Central America, and parts of the Caribbean).

Sickle cell anaemia is the most common inherited blood disorder in the United States, affecting 70,000 to 80,000 Americans. The disease occurs in approximately 1 in 500 African-American newborns and 1 in 1,000 to 1,400 Hispanic-American births.

What genes are related to sickle cell anaemia?

Mutations in the HBB gene cause sickle cell anaemia.

The HBB gene produces one of the subunits of haemoglobin, called beta haemoglobin or the beta chain. A mutation in the HBB gene produces an abnormal version of beta haemoglobin known as haemoglobin S (HbS). haemoglobin S can distort red blood cells into a sickle or crescent shape. The sickle-shaped red blood cells die prematurely, which can lead to anaemia. Sometimes the inflexible, sickle-shaped cells get stuck in small blood vessels and can cause serious medical complications.

How do people inherit sickle cell anaemia?

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.

What other names do people use for sickle cell anaemia?

  • Hb S disease
  • haemoglobin S Disease
  • Herrick's anaemia
  • SCD
  • Sickle cell disorders

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