Sickle Cell Disease: What You Need To Know

Signs and symptoms of sickle cell disease can vary in presentation and severity in different people. Some people will remain with no symptoms for many years.

Even in the same individual, these symptoms can vary drastically from one episode to another.

• Anaemia. When cells sickle and get trapped in blood vessels, they usually breakdown (haemolyse). With time this leads to fewer red blood cells (anaemia)
• Recurrent pain. This occurs when blood supply to certain areas is cut-off.
• Swollen and painful nodes in hands and feet.
  Susceptibility to infections
• Stunted growth and development in some children.
• Swelling of the abdomen – occurs when the stomach area is larger than normal. This is sometimes known as swollen belly
• Body hotness and stroke are serious signs and symptoms which requires urgent medical hospital attention.

Sickle cell disease is  inherited. This means that the disorder is transmitted from parent to child. This occurs when an abnormal change happens in the gene which regulates the making of haemoglobin part of the red blood cells.

In sickle cell, the haemoglobin is abnormal and does not support the integrity of the shape of a normal cell. This makes the cell to collapse when under certain stressful situations. This includes the normal physiological stresses of the body. For a person to get sickle cell disease, he must inherit two defective haemoglobin genes from both parents.

If both parents have sickle cell disease, then all their children will inherit the condition.

Both parents may be what is referred to as sickle cell trait individuals. Here, they have both normal and abnormal haemoglobin genes. They are usually without symptoms but they can pass the defective genes to their children who will develop sickle cell disease. If the child receives one normal and one abnormal haemoglobin gene, then they become sickle cell trait victims. They will remain without signs and symptoms but with the risk of passing the defective gene to their children.

The above medical genotype diagram illustrates what can happen where both parents have sickle cell traits. That is, they have a pair of both normal and abnormal haemoglobin genotype. when they have children, chances are:

1. The child has a 25% chance of inheriting normal haemoglobin genes
2. The child has a 50% chance of acquiring sickle cell trait status – one normal haemoglobin and one sickle cell haemoglobin gene.
3. The child inheriting both sickle cell haemoglobin genes and hence developing sickle cell disease.

Sickle cell disease is a serious condition. In our follow up article we will be discussing how to live with the sickle cell disease. There has been a lot of medical advances which have made sickle cell a manageable condition.

If you have any concerns we always advise to contact your healthcare medical service provider.