'When you have SCD, your body’s tissues and organs don’t get enough oxygen'

We asked Massachusetts General Hospital to explain to us everything we need to know about the disease…

What is sickle cell disease?

Sickle cell disease (SCD) is an inherited blood disorder which means it’s passed down from a parent’s genes. It causes the body to make abnormal haemoglobin which is the protein in red blood cells that carries oxygen to all parts of your body. When you have SCD, your body’s tissues and organs don’t get enough oxygen.

Healthy red blood cells are round and move easily all over the body. With SCD, the red blood cells are hard and sticky. They are shaped like the letter C (and like a farm tool called a sickle) and these damaged red blood cells (sickle cells) clump together. They can’t move easily through the blood vessels so they get stuck in small blood vessels and block blood flow. This blockage stops the movement of healthy oxygen-rich blood which can cause pain or damage major organs.

Sickle cells die sooner than healthy cells. Normally the spleen helps filter infections out of the blood. But sickle cells get stuck in this filter and die. Having fewer healthy red blood cells causes anaemia and can also damage the spleen which puts someone at greater risk of infections.

What causes sickle cell disease?

Sickle cell is an inherited disease caused by a defect in a gene. You are born with SCD only if two genes are inherited — one from each parent. If you have just one gene you are healthy, but you are a carrier of the disease. If two carriers have a child, there is a greater chance their child will have SCD.

Parents who are each carriers of a sickle cell gene have a 25% chance of having a child with SCD.

sickle cell disease

What are the risk factors for sickle cell disease?

Having a family history of sickle cell disease increases your risk for the disease. SCD mainly affects people whose families came from Africa, and Hispanics whose families are from the Caribbean. But the gene has also been found in people whose families are from the Middle East, India, Latin America, and Mediterranean countries. It has also been found in Native American Indians.

What are the symptoms of sickle cell disease?

Each person’s symptoms may vary. They may be mild or severe. Symptoms may include:

Anaemia

This is the most common symptom as having fewer red blood cells causes anaemia. Severe anaemia can make you feel dizzy, short of breath, and tired.

Yellowing of the skin, eyes, and mouth (jaundice)

This is a common symptom. Sickle cells don’t live as long as normal red blood cells, they die faster than the liver can filter them out so a yellow colour is caused by a substance (bilirubin) that’s released when the red blood cells die.

Acute chest syndrome

This is when sickle cells stick together and block oxygen flow in the tiny vessels in the lungs. It often happens suddenly, when the body is under stress from infection, fever, or dehydration. Symptoms may seem like pneumonia and can include fever, pain, and a violent cough.

Splenic sequestration (pooling)

The spleen becomes enlarged and painful when sickle cells get stuck there so fewer red blood cells are able to move. This can cause a sudden drop in hemoglobin.

Stroke

This is another sudden and severe problem that occurs with this disease. The sickle cells can block the major blood vessels that bring oxygen to the brain. Any interruption in the flow of blood and oxygen to the brain can cause severe brain damage. If you have a stroke from SCD, you are more likely to have a second and third stroke.

sickle cell disease

How is sickle cell disease diagnosed?

Many hospitals routinely screen newborns for sickle cell. And, a blood test called haemoglobin electrophoresis may be done. It can tell if you are a carrier of sickle cell. It can also tell if you have any of the diseases linked with the sickle cell gene.

How is sickle cell disease treated?

Your healthcare provider will figure out the best treatment for you based on:

  • How old you are
  • Your overall health and medical history
  • How sick you are
  • How well you handle certain medicines, treatments, or therapies
  • If your condition is expected to get worse
  • Your opinion or preference

How is sickle cell disease treated?

Treatment may include:

Pain medicines

These are used for sickle cell crises.

Drinking plenty of water daily (8 to 10 glasses)

This is to prevent and treat pain crises. In some cases, IV (intravenous) fluids may be needed.

Blood transfusions

These may help treat anaemia and prevent stroke. They are also used to dilute the sickled haemoglobin with normal haemoglobin. This is done to treat chronic pain, acute chest syndrome, splenic sequestration, and other emergencies.

Vaccinations and antibiotics

These are used to prevent infections.

Folic acid

This helps prevent severe anaemia.

Hydroxyurea

This medicine helps reduce the frequency of pain crises and acute chest syndrome. It may also help decrease the need for blood transfusions.

Regular eye exams

These are done to screen for an eye condition called retinopathy.

Bone marrow transplant

A transplant can cure some people with SCD. The decision to have a transplant is based on the severity of the disease and finding a suitable donor.

sickle cell disease

Living with sickle cell disease

SCD is an ongoing (chronic) condition. You may not be able to fully prevent the complications of this disease but living a healthy lifestyle can reduce some of the problems. This includes doing things such as:

  • Eating a healthy diet with lots of fruits, vegetables, whole grains, and protein
  • Getting enough sleep
  • Drinking lots of fluids

Avoid things that may trigger a crisis, such as:

  • High altitudes
  • Cold weather
  • Swimming in cold water
  • Heavy physical labor
  • Medicines for nasal congestion (decongestants). They cause blood vessels to narrow

How to avoid sickle cell infections

  • Getting a flu shot each year
  • Washing your hands often
  • Avoiding people who are sick
  • Getting regular dental exams

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