Sickle cell anaemia, also called sickle cell disease, is a condition that affects the red blood cells. The red blood cells are the part of the blood that carry oxygen to organs in the body. Normal red blood cells are round in shape, hence, move easily in blood vessels.
When people have sickle cell anaemia, their red blood cells have an abnormal shape. These abnormal red blood cells get stuck in the blood vessels easily, and so they don’t bring enough oxygen to the body’s organs.
Sickle cell anaemia is a life-long condition that people are born with. It is caused by an abnormal gene. To get the disease, people need to get the abnormal gene from both their mother and father. If people get the abnormal gene from only one parent, it’s called “sickle cell trait.” People with sickle cell trait do not usually have any of the symptoms of sickle cell anaemia.
According to World Health Organization (WHO), it is estimated that each year, over 300 000 babies with severe forms of these diseases are born worldwide, the majority in low and middle income countries.
Approximately five per cent of the world’s population are healthy carriers of a gene for sickle-cell disease or thalassemia. Sickle cell anaemia is also predominantly in the African region.
In the Africa region, the majority of children with the most severe form of the disease die before the age of five, usually from an infection or severe blood loss.
In countries such as Cameroon, Republic of Congo, Gabon, Ghana and Nigeria, the prevalence is 20 per cent to 30 per cent, while in some parts of Uganda, it is as high as 45 per cent.
Symptoms usually start after a baby is a few months old. Most commonly, people with sickle cell anaemia have episodes of pain (also known as a sickle cell “crisis.”) The pain is usually in the bones of the back, chest, belly, arms, or legs. It can be mild or severe, and last hours to days.
People can have other symptoms with their pain, including, fever, swelling (for example, in the hands or feet), nausea or vomiting.
Certain conditions easily trigger these painful crises, and these usually include, infections, dehydration (when the body loses too much water due to diarrheal illnesses, vomiting, less fluid intake), extreme cold temperatures, stress or high-altitude places (these are places where there is less oxygen in the air, such as mountains).
Children with sickle cell anaemia are also at risk of certain conditions such as anaemia (a condition when there are few red blood cells, hence, the person always feels tired and weak, suffers recurrent infections, strokes (clogged blood vessels in the brain) and has painful prolonged erections which could at times necessitate urgent surgical intervention.
There are various ways of testing for sickle cell anaemia in these children by carrying out different blood tests. In certain centres, new-borns are routinely tested for this condition. Some parents can also choose to test their unborn baby for sickle cell anaemia.
Once the child has been diagnosed with sickle cell anaemia, there are many treatment options, most of which help to treat as well as prevent these episodes—some of the episodes can be really painful and fatal if not properly attended to.
This usually involves routine antibiotics to prevent serious infections, pain medications for the crises, folic acid tabs and blood transfusions for the anaemia, as well as avoiding the triggers.
A procedure called a “bone marrow transplant” can provide cure for sickle cell anaemia. This procedure replaces the cells in the bone marrow (the inside part of bones responsible for producing the red blood cells) with healthy cells and this can be done for certain people with sickle cell anaemia who meet the criteria for the procedure.
Prevention of this condition involves genetic testing for the couples before marriage or planning pregnancy. Fortunately, these genetic testing services and counselling are more available, hence, couples, especially those with family history of sickle cell anaemia, are strongly encouraged to test prior to planning pregnancy.
Dr Ian Shyaka , Resident in Plastic surgery,Rwanda Military Hospital,