Sickle Cell Anaemia

Or Sickle Cell Disease, is a hereditary blood disorder.

What causes this disorder?

It is caused by inheriting it. And the blood cells become an abnormal, rigid, and sickle shape.

Diagnosis

Sickling of the red blood cells, on a blood film, can be induced by the addition of sodium metabisulfite. The presence of sickle haemoglobin can also be demonstrated with the "sickle solubility test". A mixture of haemoglobin S (Hb S) in a reducing solution (such as sodium dithionite) gives a turbid appearance, whereas normal Hb gives a clear solution.

How is it inherited?

Sickle-cell anaemia is a form of sickle-cell disease in which there is homozygosity for the mutation that causes HbS. Sickle-cell anaemia is also referred to as "HbSS", "SS disease", "haemoglobin S" or permutations of those names. In heterozygous people, that is, those who have only one sickle gene and one normal adult haemoglobin gene, the condition is referred to as "HbAS" or "sickle cell trait". Other, rarer forms of sickle-cell disease arecompound heterozygous states in which the person has only one copy of the mutation that causes HbS and one copy of another abnormal haemoglobin allele. They include sickle-haemoglobin C disease, sickle beta-plus-thalassaemia and sickle beta-zero-thalassaemia.

Symptoms

Symptoms usually do not occur until after the age of 4 months.

Almost all people with sickle cell anemia have painful episodes called crises. These can last from hours to days. Crises can cause pain in the lower back, leg, joints, and chest.

Some people have one episode every few years. Others have many episodes each 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 (jaundice)

Younger children with sickle cell anemia have attacks of abdominal pain.

The following symptoms may occur because small blood vessels become blocked by the abnormal cells:

  • Painful and prolonged erection (priapism)
  • Poor eyesight or blindness
  • Problems with thinking or confusion caused by small strokes
  • Ulcers on the lower legs (in adolescents and adults)

Over time, the spleen stops working. As a result, people with sickle cell anemia may have symptoms of infections such as:

  • Bone infection (osteomyelitis)
  • Gallbladder infection (cholecystitis)
  • Lung infection (pneumonia)
  • Urinary tract infection

Other symptoms include:

  • Delayed growth and puberty
  • Painful joints caused by arthritis

Treatment

The goal of treatment is to manage and control symptoms, and to limit the number of crises. People with sickle cell disease need ongoing treatment, even when not having a crisis. It is best to get care from health care that take care of many patients with sickle cell anemia.

People with this condition should take folic acid supplements. Folic acid helps make new red blood cells.

Treatment for a sickle cell crisis includes:

  • Blood transfusions (may also be given regularly to prevent stroke)
  • Pain medicines
  • Plenty of fluids

Other treatments for sickle cell anemia may include:

  • Hydroxyurea (Hydrea). Helps reduce the number of pain episodes (including chest pain and breathing problems) in some people
  • Antibiotics. Help prevent bacterial infections, which are common in children with sickle cell disease

Treatments that may be needed to manage complications of sickle cell anemia include:

Bone marrow or stem cell transplants can cure sickle cell anemia, but this treatment is not an option for most people. Sickle cell anemia patients often cannot find well-matched stem cell donors.

People with sickle cell disease should have the following vaccinations to lower the risk of infection:

Is there a cure?

Not yet, but they have made medicine to make the pain more bearable and for the symptoms to not show.