Sickle cell disease refers to a group of genetic disorders that affect hemoglobin production and the amount of oxygen red blood cells can carry. Sickle cell disease can cause pain, anemia, and reduced blood flow.
Red blood cells contain hemoglobin, which is a molecule that delivers oxygen to the body’s tissues. In sickle cell disease, a problem with hemoglobin means that the red blood cells are C-shaped (like a sickle) and sticky.
As a result, they can get stuck in the cardiovascular system. They are also unable to deliver oxygen effectively. This can affect the body in various ways.
This article will examine the causes of sickle cell disease, its effects on the body, and available treatment options.
Sickle cell disease is a genetic condition. A person can only have it if they inherit one or more faulty genes from their biological parents.
If a person has a faulty gene from just one parent, they will have sickle cell trait but not sickle cell disease. If a person inherits a faulty gene from each parent, they will have sickle cell disease.
There are several
- HbSS: A person inherits two sickle cell genes, one from each parent. They will have sickle cell anemia, which is the most severe type of sickle cell disease. Doctors call it HbSS.
- HbSC: A person inherits a sickle cell gene from one parent. From the other parent, they inherit a gene that results in another type of abnormal hemoglobin. HbSC is usually less severe than HbSS.
- HbS beta-thalassemia: A person inherits a sickle cell gene from one parent and a gene for beta-thalassemia, another type of anemia, from the other.
- Sickle cell trait: If a person has only one sickle cell gene, they will not have sickle cell disease, but they can pass that gene to their children. A person with one faulty gene has sickle cell trait.
Who does it affect?
Sickle cell disease can affect anyone, but it is more common among Black people. People of Mediterranean, South American, Middle Eastern, and South Asian ancestry also have higher rates of sickle cell disease.
Sickle cell disease disproportionately affects “people whose ancestors come from Africa; Mediterranean countries such as Greece, Turkey, and Italy; the Arabian Peninsula; India, and Spanish-speaking regions in South America, Central America, and parts of the Caribbean.”
Sickle cell disease appears to be more likely in areas where malaria is common. However, the CDC note that people with sickle cell disease seem to have a lower risk of some severe types of malaria.
If the body’s cells do not receive enough oxygen, many symptoms and complications can arise. These can occur at any age and vary among individuals.
Sickle cells break down more easily than healthy red blood cells. This can result in low levels of red blood cells, known as sickle cell anemia.
Early symptoms may
- jaundice, or a yellowing of the skin and the whites of the eyes
- fatigue
- pain and swelling in the hands and feet
Further symptoms and complications may include:
- episodes of pain
- swelling in the hands and feet
- acute chest syndrome
- vision loss
- enlarged spleen
- leg ulcers
- stroke
- deep vein thrombosis
- liver, heart, or kidney damage
- gallstones
- malnutrition (in young people)
- infertility (in males)
- priapism, which refers to a prolonged and painful erection
- pulmonary hypertension, which is high blood pressure in the blood vessels that supply the lungs
- heart failure
- bone and joint damage, which occurs due to low blood supply
- a higher risk of infections, which may have severe symptoms
- fever
The following list will provide more detail about some of the main symptoms and complications of sickle cell disease:
- Pain: During a pain episode, sickle cells get stuck and prevent blood from flowing to a part of the body. The pain can range from mild to severe and can last for any duration.
- Infections: People with sickle cell disease may have a higher risk of severe illness with COVID-19, regardless of their age.
- Chest symptoms: Acute chest syndrome is a potential complication. For a diagnosis, healthcare professionals require abnormal chest imaging, plus any of the following: chest pain, coughing, fever, and difficulty breathing.
- Enlarged spleen: A person may suddenly experience weakness, pale lips, rapid breathing and heart rate, thirst, and abdominal pain.
If any of these symptoms appear, the person needs emergency medical treatment. They may also need to spend time in the hospital.
In infants
Because a person inherits it, sickle cell disease is present before birth. A routine blood test at birth will show whether or not the condition is present.
In severe cases, an infant may have an aplastic crisis, in which the bone marrow stops producing red blood cells, leading to severe anemia. They may also have an enlarged spleen due to trapped red blood cells.
Symptoms include a low appetite and sluggishness.
In the U.S., screening for newborns includes a simple pinprick blood test to assess for sickle cell disease and sickle cell trait. If the tests show that the infant has sickle cell disease, the healthcare team will follow up with the family over time.
Tests are also available before birth, starting from
If a person with a family history of sickle cell disease plans to have children, they may wish to meet with a genetic counselor and undergo genetic testing to find out if their children are likely to have the condition.
Treatment will involve a combination of approaches, and the options will depend on the person’s specific needs.
The sections below will discuss the various treatment options for sickle cell disease in more detail.
Medication
The following drugs may help reduce the risk of complications:
- Hydroxyurea (Hydrea): This medication helps ensure the body’s adequate oxygen supply. It is not safe to use during pregnancy. Research has
not proven the benefits of this medication in children younger than 9 months of age. - L-glutamine oral powder (Endari): This helps reduce the acute complications of sickle cell disease. It is suitable from the age of 5 years.
- Crizanlizumab-tmca: This can
help reduce pain by preventing blood cells from sticking to blood vessels. It is suitable from the age of 16 years. Doctors administer this in a series of intravenous infusions.
Preventing infections
Adults and children should take precautions to reduce the risk of infections. These include:
- practicing regular hand-washing
- following food safety guidelines
- staying away from reptiles, such as turtles, as they may carry Salmonella
- receiving vaccinations for flu, pneumococcal disease, and meningococcal disease
A doctor may prescribe penicillin or another antibiotic for children below the age of 5 years.
Blood transfusions and stem cell transplants
People with severe symptoms may need a blood transfusion or a stem cell transplant.
Blood transfusions may be necessary if a person has severe anemia, an enlarged spleen, infections, or other complications.
A stem cell transplant using cells from a matched, healthy donor can cure sickle cell disease, but it can be risky. Also, the stem cells must be closely matched.
People with sickle cell disease or sickle cell trait cannot give blood, but healthcare professionals encourage anyone who can donate to do so. This may help a person with these conditions.
Many people have a healthy pregnancy with sickle cell disease. However, there may be a
- experiencing pain and other symptoms
- experiencing preterm birth
- having a baby with a low weight
Receiving appropriate medical care can help reduce these risks.
People with sickle cell disease or sickle cell trait may wish to speak to a genetic counselor if they plan to have children.
Many people with sickle cell disease can lead a full and active life, especially if they take steps to mitigate the condition’s effects.
Lifestyle measures that may help include:
- finding a suitable healthcare team
- following the recommended treatment plan, including attending regular health checks
- learning as much as possible about sickle cell disease
- drinking eight to 10 glasses of water per day
- not getting too hot or too cold, as this may trigger a crisis
- engaging in physical activity but also getting enough rest
- following a healthful diet, as this can boost overall well-being
- checking insurance coverage and eligibility for Medicaid assistance
- joining an online forum or patient registry, such as the Sickle Cell Disease Association of America, to access useful resources
- not smoking, as this can affect how much oxygen reaches the blood through the lungs
Health insurance will cover the treatment of sickle cell disease. If a person does not have insurance, they can purchase it under the Affordable Care Act or apply for Medicaid.
Sickle cell disease is a potentially life threatening blood disorder. Scientists are currently seeking a cure that will benefit all individuals with sickle cell disease.
Individuals interested in participating in a clinical trial can consult with their doctor or visit the National Institutes of Health’s Cure Sickle Cell initiative for more information.
The National Heart, Lung, and Blood Institute provides
Sickle cell disease refers to a group of genetic blood disorders that affect hemoglobin production. Hemoglobin is a protein present in red blood cells that transports oxygen around the body.
Sickle cell disease can lead to serious complications, including sickle cell anemia, reduced blood flow, pain, and other health problems.
Treatment for sickle cell disease is often multifaceted and may include lifestyle adjustments, medication, and, in severe cases, blood transfusions.