Symptoms of sickle cell disease
Fact-checked by Sickle cell disease (SCD) is a genetic disorder that causes problems with blood flow and oxygen delivery in the body. Common sickle cell symptoms and complications include anemia, pain crises, and recurrent infections.
In sickle cell, genetic mutations result in the production of abnormal forms of hemoglobin, a protein that normally helps red blood cells carry oxygen throughout the body.
Healthy red blood cells are smooth and have a circular shape, which allows them to flow easily through blood vessels. Abnormal forms of hemoglobin can cause red blood cells to deform into a crescent, or sickle-like, shape. These misshapen sickled cells tend to stick to each other and die more quickly than healthy red blood cells, disrupting blood flow and oxygen delivery to tissues and organs.
After diagnosis, it is important to recognize the signs of SCDÂ and its complications to ensure proper treatment.
Symptoms and complications
Symptoms of sickle cell typically start during a child’s first year of life, usually when they are around 5 months old. The precise timing, specific array of symptoms, and the severity of the condition vary between individuals.
Common symptoms and complications include:
- anemia
- acute and severe pain crises
- swelling
- recurrent infections
- delayed growth and development
- vision problems
- acute chest syndrome
- stroke
Several of these symptoms and complications have overlapping features. Doctors can help patients and families understand which types of symptoms require urgent attention.
Anemia
The premature destruction of sickled cells in SCD can lead to anemia, or a shortage of red blood cells and/or hemoglobin in the body. This, in turn, can disrupt oxygen delivery to tissues and organs throughout the body. Symptoms of anemia in sickle cell may include:
- fatigue and weakness
- paleness
- difficulty breathing
- dizziness and fainting
Pain crises
Pain crises, also known as vaso-occlusive crises (VOCs) or sickle cell crises, are a hallmark of SCD. They can happen when sickled cells block small blood vessels, restricting or impeding blood flow to specific areas of the body, such as the chest, limbs, or back. This can cause intense pain and inflammation in these areas.
How often someone with SCD experiences VOCs and how severe their symptoms are can vary widely.
Besides these acute sickle cell pain episodes, many adults with sickle cell experience chronic pain related to accumulating nerve, bone, and joint damage.
Swelling
As sickled cells clog blood vessels, they can get trapped in tissues and organs, causing swelling. This may include:
- swelling in the hands and feet, known as dactylitis
- joint swelling
- swelling of the spleen, an immune organ in the abdomen
Dactylitis, often accompanied by a fever, can be an early sign of sickle cell for some infants.
Recurrent infections
People with SCD are more vulnerable to infections, particularly bacterial infections. This is because the condition can affect the spleen and impair immune function.
Symptoms of sickle cell infections vary, but common signs of bacterial infections include:
- fever
- chills
- fatigue
- headache
Delayed growth and development
Chronic anemia in sickle cell can deprive tissues of the oxygen they need to develop properly. This can delay growth for children and delay puberty for adolescents. As a result, adults with sickle cell are sometimes shorter and thinner than people without the disease.
Vision problems
Sickled cells can block blood vessels that deliver oxygen to different parts of the eye, including the light-sensitive tissue at the back of the eye that enables vision called the retina. This type of blockage can lead to sudden sickle cell vision problems, such as:
- blind spots
- floaters (small specks or dots in the field of vision)
- blurred vision
- flashes of light
- vision loss
Acute chest syndrome
Acute chest syndrome, or ACS, is a severe and potentially life-threatening complication of sickle cell that can have several causes. It can occur when sickled cells block blood flow in the lungs, or as a result of an infection. Symptoms include:
- chest pain
- coughing
- fever
- difficulty breathing
Stroke
Another possible complication of sickle cell is stroke, which can occur when sickled cells block blood flow to the brain and the brain doesn’t have enough oxygen to work properly. Signs of a stroke can include:
- numbness or weakness, particularly on one side of the body
- confusion
- sudden changes in vision
- dizziness or lack of coordination
- severe headaches
The risk of stroke is particularly high in children with SCD. Regular follow-up testing after diagnosis can help doctors monitor stroke risk and adjust treatment as needed.
Other symptoms and complications
Some people experience other symptoms or sickle cell complications, such as:
- death of bone tissue due to reduced blood flow and a lack of oxygen supply, called avascular necrosis
- leg sores (ulcers) due to poor circulation
- painful, sustained erections (priapism)
- pulmonary hypertension
- sleep apnea
- liver, kidney, and heart damage
When to seek medical help
During a VOC, pain medications may be sufficient to manage symptoms. However, if an episode is difficult to control, more intensive support in a hospital setting may be required.
Warning signs of potential complications that may require immediate emergency care include:
- severe pain
- fever
- sudden vision changes
- difficulty breathing
- symptoms of severe anemia, such as fatigue, dizziness, and shortness of breath
- symptoms of ACS, such as chest pain and coughing
- signs of a stroke, including confusion and sudden weakness or numbness on one side of the body
- painful erections lasting longer than four hours
In addition to emergency care, regular checkups with primary care doctors and specialists are important. These visits can help doctors identify signs of complications and adjust treatment plans as needed.
Monitoring and management
In addition to formal monitoring, a daily sickle cell symptom diary can help track responses to different therapies. It may also help patients notice specific symptom patterns and spot early warning signs of sickle cell crises or events that may bring on a crisis.
Doctors may also recommend that people living with sickle cell make lifestyle changes to manage the risks of certain complications. Common sickle cell management tips include:
- staying up to date with vaccinations to decrease infection risk
- decreasing stress levels
- getting enough sleep
- exercising safely and appropriately for their level of ability
- eating a diet that supports heart health
- avoiding smoking or vaping
- staying hydrated
- identifying and avoiding situations that could trigger a pain crisis, such as sudden temperature changes
Which strategies are appropriate and necessary may be different depending on the situation. If in doubt, patients and families should consult their care team.
Sickle Cell Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.
