What is sickle cell disease?
Sickle cell disease is an inherited condition that affects the red blood cells, making them change their shape from the normal disc shape to a sickle shape. This stops the sickled cells from flowing easily in the bloodstream. They sometimes get stuck in small blood vessels, and this can stop blood reaching parts of the body, which can cause pain.
Sickle cell disease is due to inheritance of two abnormal genes (SS), one from each parent. This is possible if both parents have an ‘S’ gene (e.g. AS). If only one parent has an ‘S’ gene (e.g. AA father and AS mother), then they can only give birth to an AA or AS child. An AS individual is said to have sickle cell ‘trait’, not the disease itself, and so does not show any symptoms of sickle cell disease.
Sickle cell disease is most common among Africans, but people from a Mediterranean, Caribbean, Middle Eastern, or Asian background also can be affected. Individuals with sickle-cell trait are relatively resistant to the deadly effects of falciparum malaria in early childhood; this may explain the high occurrence of the trait in Africa. However, people with sickle cell disease do not have correspondingly greater resistance to falciparum malaria.
What are the symptoms?
Severe bone pain may is the commonest symptom, and occurs because of plugging of small vessels in the bone. The bones of the hands and feet are usually affected in children, causing them to be swollen. In adults, the bones of the arms and thighs may be affected, as well as ribs and backbone. Fever and sweating may also be present.
The individual may become breathless when the lungs are affected. The abdomen may also become enlarged because of swelling of some organs like the spleen in children, and the liver in adults. Breathlessness and enlarged organs often occur in serious cases and may lead to death.
How can this be managed?
One may need to avoid stress, get enough rest and drink plenty of fluids. Some people find very hot or cold temperatures bring on attacks of sickle cell pain, so these should be avoided. Moderate exercise can be good, but very strenuous exercise might bring on an attack.The doctor may prescribe some drugs like folic acid, and antibiotics to guard against infections. Some vaccines may also be given to the same effect.
When symptoms occur, aggressive rehydration, oxygen therapy and adequate painkillers and antibiotics are required. Blood may need to be transfused as well. Stem-cell transplantation is a potentially curative treatment for sickle cell disease, but it is not yet commonly done.
What will happen to me?
Many people cope well with sickle cell disease and live full lives. Treatments can help with sickle cell pain and also help prevent problems such as infections. In Africa few children with sickle-cell anaemia survive to adult life without medical attention. Even with standard medical care, approximately 15% die by the age of 20 years and 50% by the age of 40 years.