What is Sickle Cell Disease?

Many people often ask: What is sickle cell disease?

In many cases, individuals have the condition without knowing. 

Sickle cell disease, sometimes known as sickle cell anaemia is a blood disorder that causes anaemia, which is also known as a shortage of red blood cells, and periodic pain. 

In people with sickle cell disease not all of their haemoglobin (a molecule in red blood cells that carries oxygen to other parts of the body) works properly. Instead, some of the haemoglobin forms long, rod-like structures that cause the red blood cells to be sickle-shaped and stiff. 

These cells can then go on to clog small blood vessels, preventing some organs or tissues from receiving enough oxygen. When this happens, it can cause episodes of severe pain or damage organs and tissues and may lead to other serious medical problems. 


What causes Sickle Cell Disease?

Sickle Cell Disease is caused by an error in the gene that tells the body how to make haemoglobin. The defective gene tells the body to make the abnormal haemoglobin that results in deformed red blood cells. Children who inherit copies of the defective gene from both parents will have sickle cell anaemia. Children who inherit the defective sickle haemoglobin gene from only one parent will not have the disease, but will carry the Sickle Cell trait. Individuals with Sickle Cell trait generally have no symptoms, but they can pass the sickle haemoglobin gene on to their children.

The error in the haemoglobin gene results from a genetic mutation that occurred many thousands of years ago in people in parts of Africa, the Mediterranean basin, the Middle East, and India. A deadly form of malaria was very common at that time, and malaria epidemics caused the death of great numbers of people.

Studies show that in areas where malaria was a problem, children who inherited one sickle haemoglobin gene and who, therefore, carried the Sickle Cell trait – had a survival advantage. Unlike the children who had normal haemoglobin genes, they survived the malaria epidemics they grew up, had their own children, and passed on the gene- for sickle haemoglobin.

As populations migrated, the sickle cell-mutation spread to other Mediterranean areas, further into the Middle East and eventually into the Western Hemisphere. In the United States and other countries where malaria is not a problem, the sickle haemoglobin gene no longer provides a survival advantage. Instead, it may be a serious threat to the carrier’s children, who may inherit two abnormal sickle haemoglobin genes and have Sickle Cell anaemia.


What is Sickle Cell Trait?

Sickle Cell trait is when a person carries one sickle haemoglobin producing gene inherited from one parent and one normal haemoglobin gene inherited from the other parent. Normal haemoglobin is called type A. Sickle haemoglobin called S. Sickle Cell trait is the presence of haemoglobin AS on the haemoglobin electrophoresis. This will NOT cause Sickle Cell disease. AC and AE are other common haemoglobin traits. 



A selection of video resources which help to further explain the condition and the lives of those survivors.

Non-Medical Treatment

Learning how to relax using breathing techniques

Relaxed (Diaphragmatic) Breathing

Relaxed Breathing

Relaxation techniques are useful exercises to help reduce tension, decrease concern, improve sleep, and make you feel much calmer. These techniques use physical and mental activities, which focus attention on calming the body and mind, generating feelings of relief.

Practicing and continually employing such technique can have significant benefits pre, post and even during a sickle cell crisis. Good relaxation should begin with relaxed breathing. This will help prepare you for deeper relaxation. Once you master relaxed breathing, you can continue to add other relaxation exercises to your routine.

Given that breathing is second nature to us, we seldom think about the way that we breathe. Learning to breathe abdominally (through the diaphragm) can promote relaxation, which improves physical and mental health. Over time, most people begin to breathe by moving their chest and/or shoulders.

However, if you watch a baby breathe, you will see that they breathe by moving their belly, which is the most efficient way to take in oxygen and remove carbon dioxide with the least effort.

The diaphragm is the muscle that controls breathing. It is a dome-shaped muscle that sits beneath the lungs, above the abdominal cavity. When a breath is taken, the diaphragm flattens out, allowing the lungs more room to expand with air. When air is exhaled from the lungs, the diaphragm returns to its arched shape. Though breathing is an automatic function, the movements of the diaphragm can be controlled voluntarily with training. Learning how to control the diaphragm and the way we breathe can be beneficial in many ways.

The best way to begin relaxed breathing is lying down on your back. Once you are comfortable breathing in this position, and you mastered this concept you can then try it sitting and standing.

You should practice diaphragmatic breathing frequently for short periods of time. At first, maybe 10-15 times per day for 1-2 minutes each time. Try to practice in different situations, such as lying down, sitting, standing, on a bus, walking or in the car. Performing relaxed breathing techniques can become a quick and easy method to alleviate stress.

Method: It may help to put one hand on your stomach (over your belly button) and one hand on your breastbone. Watch to see which hand is moving more when you breathe in and out. Try to get the hand on your stomach to move more as you breathe, without forcing it.

Each time you breathe in, imagine a balloon filling with air, and each time you breathe out, imagine the balloon deflating.

Be sure to breathe in a slow, gentle, and natural way. If you become dizzy or light-headed, take smaller breaths and slow down.