September is National Sickle Cell Awareness Month, and while there are very few who know about the disease, there are approximately 100,000 people suffering with the condition in the United States alone. There are serious health problems associated with the disease that warrant more awareness that could be prevented with careful screening and simple blood tests. In part one of this article I would like to shed some light on what this disease is, who it affects, and how to manage its symptoms. I have a personal connection as a carrier of the trait, so in part two I will provide some insight on what my experience has been since being diagnosed, and the historical perspective of screenings in the city of Milwaukee compared to current practices.
What is Sickle Cell Disease?
Sickle cell disease (SCD) is a genetically inherited blood disorder. There are several different forms of SCD, and the most common and usually the most severe form is sickle cell anemia.
- Normal red blood cells are round like doughnuts, and they move through small blood tubes in the body to deliver oxygen. (fig.1)
- Sickle red blood cells become hard, sticky and shaped like sickles used to cut wheat. (fig.2)
- When these hard and pointed red cells go through the small blood tube, they clog the flow and break apart. This can cause pain, damage and a low blood count, or anemia. (fig.3)
(Proudford, 2014, para. 2)
Symptoms of Sickle Cell Disease
When the red blood cells sickle they block the flow of blood in the vessels. This can cause a myriad of symptoms including:
- Bone Pain: Decreased blood flow to the bones leads to periodic spikes in bone pain known as bone crises.
- Acute Chest Syndrome: Sickled cells in the lungs cause decreased blood flow, inflammation and acute lung injury. Patients may need to be on a ventilator.
- Infections: The spleen fails in SCD patients at a young age, decreasing the body’s ability to fight infections.
- Anemia: Sickled blood cells are less able to carry oxygen, leading to anemia. Symptoms can include fatigue, weakness, dizziness, headache, shortness of breath and chest pains.
- Eye Disease: Sickled blood cells can damage the fragile blood vessels in the back of the eye, leading to retina damage.
- Lower Extremity Ulcers: Older children and adults with SCD can develop sores on the lower leg.
- End Organ Disease: Decreased blood flow can lead to organ failure, potentially affecting the kidneys, liver and heart.
- Stroke: Children between the ages of 6 and 10 are at high risk of stroke. Older patients have a lower overall risk of stroke, but they have a higher risk of dying from a stroke. Children with SCD tend to experience symptoms on an episodic basis. As patients enter adulthood, they tend to have chronic symptoms and organ dysfunction.
(Sickle Cell Disease Treatment, 2014, para. 2)
Who Is Affected?
The misconception is that those with African ancestry are the only ones with the condition. In fact, people around the world have inherited sickle cell, including South and Central America, India, and the Mediterranean. Sickle cell disease is inherited when both parents have sickle cell genes. When a child inherits one sickle cell gene and one normal gene they have sickle cell trait.
How Sickle Cell Trait is Inherited
People who inherit one sickle cell gene and one normal gene have sickle cell trait (SCT). People with SCT usually do not have any of the symptoms of sickle cell disease (SCD), but they can pass the trait on to their children.
If both parents have SCT, there is a 50% (or 1 in 2) chance that any child of theirs also will have SCT, if the child inherits the sickle cell gene from one of the parents. Such children will not have symptoms of SCD, but they can pass SCT on to their children.
If both parents have SCT, there is a 25% (or 1 in 4) chance that any child of theirs will have SCD. There is the same 25% (or 1 in 4) chance that the child will not have SCD or SCT.
If one parent has SCT, there is a 50% (or 1 in 2) chance that any child of this parent will have SCT and an equal 50% chance that the child will not have SCT. (Sickle Cell Disease, 2014, para. 2)
Diagnosis and Treatment
Sickle cell is diagnosed with a simple blood test. It is usually found during routine newborn screenings, but can also be diagnosed before birth. Early screening is best because treatment for the condition can begin before symptoms cause further damage. This treatment can vary by the person and severity, ranging from fluids and oxygen to blood transfusions for the most severe cases of anemia.
Is There a Cure?
Bone marrow or stem cell transplant has been the only known cure for those with sickle cell disease and they are extremely risky. Therefore, it is even more important that couples seek genetic counseling and more people register for the marrow donor lists to help find the closest match possible.
How Sickle Cell Trait is Inherited. (2014). Retrieved September 2014, from http://www.cdc.gov/ncbddd/sicklecell/traits.html
Sickle Cell Disease Treatment. (2014). Retrieved September 2014, from http://www.froedtert.com/.
What is sickle cell disease? (2014). Retrieved September 2014, from http://www.wepsicklecell.org/about/.