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Sickle cell disease: Overview, symptoms, and causes

Sickle cell disease, also known as sickle cell anemia, is a group of disorders affecting the red blood cells in the body.

How people understand sickle cell disease (SCD) has developed over time. In order to better understand the disease, it is important to take a look at the factors that influence sickle cell disease, as well as the effects it has on the body.

SCD causes the body to create abnormal hemoglobin cells. Hemoglobin is the protein that carries oxygen through the body. The resulting cells have a sickle or crescent shape to them, which is where the disorder gets its name.

This article will also look at the symptoms and diagnosis of SCD, as well as treatment options for people affected by the condition.

Causes and prevalence

Sickle cell disease blood cells

Sickle cell disease causes abnormal blood cells that are sickle shaped.

SCD is genetic, meaning that it is passed through the bloodline of people who have it. It is possible for people to have only one sickle cell gene, so they do not have the disorder themselves. These people may pass that gene to their children, who are then at risk for contracting the disease if their partner has the gene also.

Sickle cell disease affects people of every background. According to the Centers for Disease Control and Prevention (CDC), people of sub-Saharan African descent are most likely to have the gene for SCD. It is also more common in South and Central America than in other areas of the Western Hemisphere.

Saudi Arabia, India, Turkey, Greece, and Italy also experience a higher percentage of SCD cases than other areas. In the United States, SCD affects approximately 100,000 people.

What does sickle cell disease do?

SCD directly affects the hemoglobin cells in the blood. These cells carry oxygen around the body, so they are very important for keeping other areas of the body healthy.

The abnormal sickle-shaped hemoglobin cells associated with SCD do not last as long as normal hemoglobin cells. This leads to a lower number of healthy red blood cells in the bloodstream at any one time. This can cause problems in nearly any area of the body.

The sickle shape of these cells also makes them prone to sticking in blood vessels and blocking the flow of blood to nearby areas of the body.

Symptoms

There are a few direct symptoms of SCD. The most telling sign of sickle cell disease is called the sickle cell crisis. A sickle cell crisis is a sudden episode of severe pain in an area of the body.

Acute chest syndrome is another serious event that often requires care in the intensive care unit of the hospital. Acute chest syndrome is usually caused by blocked blood vessels in the lungs, but can also be a secondary symptom of infection.

Other symptoms include:

older man holds his head
A sudden episode of pain in the body is called a sickle cell crisis.
  • Swollen hands and feet
  • Anemia
  • Jaundice, which is the yellowing of the skin and whites of the eyes
  • Kidney problems
  • Spleen problems
  • Gallbladder disease
  • Painful, prolonged erections in men
  • Bone and joint problems
  • Serious infections
  • Leg sores
  • High blood pressure in the lungs
  • Heart failure
  • Eye disease
  • Strokes

Because SCD affects the blood, symptoms can appear almost anywhere. For instance, people with SCD have a greater risk of problems with thinking and the lungs. It is therefore important for people with SCD to be regularly screened by a doctor.

Complications

Complications can occur with sickle cell disease as well. According to one study, smoking increases the risk of pain episodes and acute chest syndrome in adults with sickle cell disease.

Acute chest syndrome accounts for the largest number of hospitalizations and deaths associated with sickle cell disease. Because of this, smoking may be seen as one of the biggest avoidable risk factors for people with SCD.

The problem may be that smoking causes less oxygen to reach the blood through the lungs. In a person with SCD, this is especially dangerous because their blood is already prone to having low oxygen levels. Secondhand smoke may also pose a threat to people with SCD.

Diagnosing

Diagnosing SCD has become easier over time. All that is required is a simple blood test to see if someone has the condition. It is usually recognized at birth with newborn screening tests in the U.S., but not all countries check newborns.

Because SCD is genetic, anyone with a genetic history of sickle cell disease should have a discussion with their doctor if they are deciding to have children. Women who are pregnant should receive extra care and attention to find and treat problems before they arise.

Prenatal tests exist as well, which allow people to tell if their baby has SCD even before it is born.

Living with sickle cell disease

SCD is a lifelong disorder. Because of this, it is important to think of the long-term options that will enable a person with SCD to lead a long and happy life. To do this, a combination of medical options and lifestyle choices are usually recommended.

Medical options

Medical treatment for SCD involves educating people about reducing their risk factors, as well as taking regular screening tests and having frequent checkups in order to track the condition.

Because people with SCD are more prone to infection, the CDC recommend regular vaccinations to prevent serious infection. The CDC also advise adults to get the flu vaccine every year, as well as the pneumococcal vaccine and any others recommended by a person’s doctor.

putting out a cigarette in an ashtray
Quitting smoking is suggested for people with sickle cell disease.

For children, the CDC recommend the flu vaccine be administered every year after 6 months of age. They also recommend that children be given the pneumococcal vaccine and meningococcal vaccine if recommended by their doctor.

The CDC also recommend that 

People with SCD will also undergo regular blood and urine tests, oxygen saturation tests, eye exams, ultrasounds, and cognitive tests. These are all used to track a patient’s risk for complications from SCD. People should work directly with their doctor to determine the best plan of action.

Treating symptoms is handled differently in every situation. There are often combinations of pain medication and relief techniques used to treat symptoms like acute and chronic pain. Other symptoms, like anemia and acute chest syndrome, often require hospital visits.

Some people are given medications to increase another type of hemoglobin called fetal hemoglobin. This hemoglobin makes it less likely for the sickle cells to change shape and cause problems.

Some people may also need blood transfusions, particularly if they have had a stroke from SCD.

At present, the only permanent treatment method is called hematopoietic stem cell transplantation, which has its own risks and complications. It is usually reserved for severe cases of SCD.

Lifestyle choices

Much of treating SCD lies in preventing episodes before they occur. In order to do this, many people with SCD find that taking steps to support a healthful lifestyle in general provide them with some relief.

People with SCD should consider quitting smoking, and should try to limit their exposure to tobacco smoke. Parents of children with SCD should stop smoking as well, in order to protect their children.

Those with SCD may also benefit from eating a well-balanced diet and limiting the amount of alcohol they consume. Keeping the blood as healthy as possible can also help to limit the symptoms of SCD. Plenty of rest is also a necessity for people with SCD, as they may become tired more easily.

It is also important for people with SCD to keep their heart healthy. Allowing the heart to pump blood more efficiently keeps fresh oxygen circulating through the body. Because of this, many people with SCD benefit from regular exercise.


Source: myjoyonline

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