Overview on sickle cell disease
Sickle-cell disease (SCD) is a group of genetically passed down blood disorders. The most common type is known as sickle-cell anaemia (SCA). It results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. This leads to a rigid, sickle-like shape under certain circumstances. Problems in sickle cell disease typically begin around 5 to 6 months of age. A number of health problems may develop, such as attacks of pain, anaemia, bacterial infections, and stroke.
Sickle-cell disease occurs when a person inherits two abnormal copies of the haemoglobin gene, one from each parent. An attack can be set off by temperature changes, stress, dehydration, and high altitude.
Causes of sickle cell disease
Sickle cell anemia is caused by a mutation in the gene that tells the body to make 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 mis-shapen. 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 may contain some sickle cells, but they generally don’t experience symptoms. However, they are carriers of the disease, which means they can pass the defective gene on to their children.
Signs and symptoms of sickle cell
Signs and symptoms of sickle cell anemia often don’t appear until an infant is at least 4 months old and may include:
- Anemia: Sickle cells are fragile. They break apart easily and die, leaving you without a good supply of red blood cells. Red blood cells usually live for about 120 days before they die and need to be replaced. But sickle cells die after an average of less than 20 days. This results in a lasting shortage of red blood cells (anaemia). Without enough red blood cells in circulation, the body cannot get the oxygen it needs to feel energized. That is why anaemia causes fatigue.
- Episodes of pain: Periodic episodes of pain, called crises, are a major symptom of sickle cell anaemia. 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 the bones. The pain may vary in intensity and can last for a few hours to a few weeks. Some people experience only a few episodes of pain. Others experience a dozen or more crises a year.
- Hand-foot syndrome: Swollen hands and feet may be the first signs of sickle cell anemia in babies. The swelling is caused by sickle-shaped red blood cells blocking blood flow out of their hands and feet.
- Frequent infections: Sickle cells can damage the spleen, an organ that fights infection. This may make the individual to be more vulnerable to infections.
- Delayed growth: Red blood cells provide the body with the oxygen and nutrients needed for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
- Vision problems: Some people with sickle cell anemia experience vision problems. Tiny blood vessels that supply your eyes may become plugged with sickle cells which can damage the retina.
Prevention of anaemia
Couples who are planning to have children and know that they are at risk of having a child with sickle cell disease (SCD) are advice to meet with a genetics counsellor. The genetics counsellor advice people with abnormal copies of the haemoglobin gene to avoid getting married to themselves.
Management of sickle cell disease
People with sickle cell disease (SCD), should learn as much as they can about the disease especially on how to adequately manage the disease through:
- Pursuing a healthy lifestyle: It is advisable to strive to maintain a healthy lifestyle that includes, a nourishing diet, enough sleep and regular physical activity so people with SCD often tire easily, so individuals with SCD should avoid very strenuous activities. It is important for people with SCD should avoid smoking including second-hand smoke. It is also advisable to drink extra water to avoid dehydration.
- Preventing complications: Complication leading to crises such as extreme heat or cold, as well as abrupt changes in temperature should be avoided.
