Sickle Cell Report

What is it?
Sickle cell anemia is a type of blood disorder that can be inherited from parents. This is when red blood cells that are meant to carry oxygen around the body become deformed. Normal red blood cells are round and disc shaped, however, when they become sickle red blood cells, the deform and change shape into a crescent-like shape or sickle shape. The sickle cells have a shorter life-span than a healthy red blood cell and are not replaced as quickly as normal; this leads to a shortage of red blood cells, called anemia.
How is it caused?
Sickle cell anemia is caused by a genetic mutation that affects normal development of a red blood cell. A genetic mutation happens when the genetic information found inside all living cells become scrambled in some way meaning one or more of the processes of the body do not work in the way they should. The mutation that causes sickle cell anemia is often referred to as the sickle cell trait. Having the sickle cell trait itself will not cause a person to develop sickle cell anemia. But if two people with the trait conceive a child then there is a one in four chance that child will be born with sickle cell anemia.
What is the DNA change?
A change in one nucleotide of a DNA sequence. This leads to a change in an amino acid that changes how the haemoglobin protein folds. This change in the structure of the haemoglobin protein leads to a change in the shape of the red blood cell to a sickle shape.
What is the structural change?
The structural change of Sickle cell anaemia is (as explained in previous paragraphs) that normal red blood cells change from being donut-like shaped in order to optimise the amount of oxygen it can carry, The DNA change makes it mutate into a crescent shape.
How does the structural change affect the red blood cell?
Because of the shape of the sickle cell, It is unable to carry as much oxygen as a normal red blood cell and therefore making the person with it sometimes struggle to breath and tired (especially after exercise).
Symptoms of Sickle cell anaemia
Symptoms usually do not occur until after age 4 months.The sickle cells then clog parts of blood vessels and can cause a sickle cell crisis (episodes of severe pain also known as a vaso-occlusive crisis). They can last from a few minutes to several months, though on average most last five to seven days. These crises can cause pain in the bones of the back, the long bones, and the chest. Some patients have one episode every few years. Others have many episodes per year. The crises can be severe enough to require a hospital stay. When the anemia becomes more severe, symptoms may include: * Fatigue * Paleness * Rapid heart rate * Shortness of breath * Yellowing of the eyes and skin * Younger children with sickle cell anemia have attacks of abdominal pain.
The following symptoms may occur because small blood vessels may become blocked by the abnormal cells: * Painful and prolonged erection * Poor eyesight or blindness * Problems thinking or confusion caused by small stroke * Ulcers on the lower legs (in adolescents and adults)
Over time, the spleen no longer works. As a result, people with sickle cell anemia may have symptoms of infections such as: * Bone infection * Gallbladder infection * Lung infection (pneumonia) * Urinary tract infection
Other symptoms include: * Delayed growth and puberty * Painful joints caused by arthritis
Where Sickle cell is more prevalent
Sickle cell disease affects millions of people worldwide. It is most common among people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India; and Spanish-speaking regions in South America, Central America, and parts of the Caribbean.
It is estimated that around a quarter of a million people in England have the sickle cell trait; most of whom have African-Caribbean ancestry.