World Sickle Cell Awareness Day is celebrated on June 19th of each year to raise the public awareness about sickle cell disease and its treatment methods.
Sickle Cell Disease (SCD) is the most frequent genetic disease worldwide. It is present on four continents: in sub-Saharan Africa and in the Maghrib, in Asia (Middle-East, Arabic peninsula, India), in the Americas, on the North (USA), centre (Guatemala, Caribbean islands), and on the South (Brazil,Surinam, Guiana), in Southern Europe (Southern Italy and Sicily, Greece, Turkey). It is estimated that 500.000 are born every year with this severe condition and that 50% of them will die before the age of 5 years. Trans-continental, SCD is also trans-ethnic and affects black populations from African origin and Arabic, Indian and Caucasian populations from Southern Europe.
If you are Nigerian, there is a good chance that you know at least one person affected by the disease. Still sickle cell remains a poorly understood disease, hence the need for more awareness to be raised.
Sickle cell disease is the name for a group of inherited health conditions that affect the red blood cells. The most serious type is called sickle cell anaemia. People with sickle cell disease produce unusually (sickle or crescent) shaped red blood cells that can cause problems because they do not live as long as healthy blood cells and can block blood vessels. Red blood cells are normally round and flexible but in sickle cell disease they become stiff and sickle shaped, stopping the blood cells, and the oxygen they carry, from being able to move freely around the body and causing pain. These painful episodes are referred to as sickle cell crisis. They are treated with strong painkillers such as morphine to control the pain.
What Causes Sickle Cell Disease
Sickle cell anemia is caused by an abnormal change in the gene that tells your body to make the red, iron-rich compound that gives blood its red color (hemoglobin). Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body. In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen. These abnormal red blood cells are not able to carry oxygen efficiently around the body and they also get stuck inside the blood vessels leading to pain.
The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected.
If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin. Their blood might contain some sickle cells, but they generally don’t have symptoms. But they are carriers of the disease, which means they can pass the gene to their children.
Common symptoms of sickle cell disease include:
● Anemia. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anemia).Without enough red blood cells, the body can’t get the oxygen it needs to feel energized, causing fatigue.
● Episodes of pain. Periodic episodes of pain, called crises, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow through tiny blood vessels to the chest, abdomen and joints. Pain can also occur in bones.
Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers and other causes.
● Painful swelling of hands and feet. The swelling is caused by sickle-shaped red blood cells blocking blood flow to the hands and feet.
● Frequent infections. Sickle cells can damage an organ that fights infection (spleen), leaving patients more vulnerable to infections. Doctors commonly give infants and children with sickle cell anemia vaccinations and antibiotics to prevent potentially life-threatening infections, such as pneumonia.
● Delayed growth. Red blood cells provide your body with the oxygen and nutrients you need for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
● Vision problems. Tiny blood vessels that supply the eyes may become blocked with sickle cells. This can damage the retina — the portion of the eye that processes visual images, leading to vision problems.
There are also complications which may occur including: Stroke, organ damage, gall stones, acute chest syndrome, amongst others.
A number of treatments for sickle cell disease are available. The type of treatment should be decided on my a hematologist which is a doctor who specializes in blood disorders. The only cure for sickle cell disease is a stem cell or bone marrow transplant, but this is a very expensive procedure that comes with it’s own risks and isn’t done very often.
Sickle cell disease is a lifelong ailment that can be quite debilitating for some people and given how common it is in our part of the world, it is important for us to educate ourselves about this disease in order to help those affected and where possible to reduce the occurence by encouraging persons with the sickle cell trait/disease to seek genetic counselling prior to having children.
