Sickle Cell Disease: Overview
This guide to sickle cell disease (SCD) explains the basics of the condition and how it's monitored, and gives insights into the latest research and treatment options from experts in the field.
Explore Sickle Cell Disease (SCD) articles and topics
What Is Sickle Cell Disease? Understanding the Genetic Blood Disorder
Sickle Cell Disease Is Often Diagnosed Shortly After Birth: Starting Care Early Is Crucial
Types of Sickle Cell Disease: What Are the Different Blood Disorders?
Common Sickle Cell Disease Symptoms: Understanding the Pain
Treating Sickle Cell Disease: Reducing Pain and Organ Damage
Living With Sickle Cell Disease: Transitioning From Pediatrician to an Adult Doctor
Sickle Cell Disease Requires Lifelong Care
Sickle cell disease (SCD) is a group genetic blood disorders that is often diagnosed shortly after birth. In the United States, newborns are screened for the disease so treatment can begin immediately if necessary. Because of this, many children with SCD will be under the care of the same pediatrician for much, if not... Read More
Because SCD is inherited, babies are screened for it at birth. This is because it is a serious illness that requires early intervention.
The disease can also be detected while a baby is still in the womb.
Symptoms often begin to show up when a baby is around six months old.
Dr. Sophie Lanzkron, Director of the Sickle Cell Center for Adults at Johns Hopkins, tells SurvivorNet that this early detection is a critical part of care.
Parents can learn early how to help their child and what signs to look out for to ensure their baby stays in good health, Dr. Lanzkron says.
Dr. Sophie Lanzkron explains the importance of early detection of SCD in babies.
This early detection is crucial because people with SCD have an increased risk of infection and other complications associated with the disease.
“In places like Africa where they don’t have newborn screening, 50,000 children die before their fifth birthday because they don’t have access to newborn screening, penicillin prophylaxis, and educating providers,” Dr. Lanzkron explains.
“So, [early diagnosis] really makes a big difference.”
Sickle Cell Disease Symptoms & Complications
There are several different types of SCD, but regardless of type, the most common symptom is pain.
“The most common symptoms for all of them are painful episodes,” Dr. Lanzkron explains.
“So these acute, unexpected excruciating episodes of pain that happen when cells get stuck and areas beyond where the cells get stuck do not get oxygenated.”
The severity of the symptoms and complications patients experience depend on what type of disease they have, as well as several other factors.
Some people live with very mild disease, while others have serious complications that require much more intervention.
According to the Centers for Disease Control and Prevention (CDC), other common symptoms/complications include:
- Acute chest syndrome (a condition where sickle cells stick together and block the flow of oxygen from vessels in the lungs)
- Anemia (a condition where the body does not have enough red blood cells, leading to weakness, fatigue and shortness of breath)
- Blood clots
- Infection, particularly pneumonia
- Leg ulcers (wounds)
- Liver issues
- Kidney issues
- Organ damage
- Vision Loss
- Swelling in the hands and feet, due to blocked blood flow
Dr. Lanzkron stresses that SCD can affect every organ in the body, which is why monitoring the disease is so important.
How Is Sickle Cell Disease Treated?
No matter your type of sickle cell disease (SCD), a group of inherited red blood cell disorders, the main goals of treatment include reducing pain and organ damage. "Our goal is to prevent these episodes of pain ... and the other is to protect organs over the long-term," Dr. Sophie Lanzkron, Director of the Sickle Cell... Read More
There are several different types of SCD, and specific complications are more common with specific types.
According to the CDC, the three most common types of SCD are:
- HbSS This is commonly called sickle cell anemia and is usually the most severe form of the disease. People with this type of SCD have inherited two of the same genes (S) – one from each parent – that code for abnormal hemoglobin.
- HbSC This is usually a milder form of SCD. People with this type of the disease inherited two different genes that code for abnormal hemoglobin. An S from one parent and a C from the other.
- HbS beta thalassemia People with this form of SCD inherited an S gene from one parent and a gene for beta thalassemia, a different type of hemoglobin abnormality, from the other. This type of SCD is broken up into two additional categories: zero (HbS beta0) and plus (HbS beta+). The beta0 form tends to be more severe, while the beta+ form tends to be milder.
There are a few additional, rarer forms of the disease:
- HbSD: Patients have one gene for the sickle hemoglobin, and another for hemoglobin D, which is another abnormal form of hemoglobin.
- HbSE: These patients possess one gene for the sickle hemoglobin, and one for hemoglobin E, which is a distinct abnormal form of hemoglobin.
- HbSO: In this form of the disease, the sickle hemoglobin gene is combined with another abnormal hemoglobin gene that makes hemoglobin O.
Dr. Lanzkron explains the different types of sickle cell disease.
The treatment approach for sickle cell disease can vary a great deal depending on what type a person has and the severity of the disease.
According to Dr. Lanzkron, the main goals of treatment are to reduce and prevent episodes of pain and protect organs long-term.
“We know that chronic hemolysis, or chronic breakdown of red cells, leads to kidney damage, lung damage, heart damage over time,” she says.
Dr. Lanskron explains that the standard therapy for SCD, which has been around for many years, is hydroxyurea.
Hydroxyurea was approved by the Food and Drug Administration in 1998, according to Dr. Lanskron, and it can be used for several types of SCD.
The drug helps reduce the number of sickle cells, decrease pain, lower the risk of acute chest syndrome, and reduce the need for blood transfusions.
Three other drugs L-glutamine (such as Endari), crizanlizumab (Adakveo), and voxelotor (Oxbryta) have been approved more recently to treat SCD.
According to Hopkins Medicine, other potential treatment options include:
- Pain medications
- Blood transfusions
- Vaccines or antibiotics (to prevent infection)
- Folic acid
- Regular eye exams
- Bone marrow transplant
Lifestyle Changes to Help Manage Symptoms
Your doctor may also recommend some lifestyle adjustments that can help prevent complications from SCD, according to the CDC.
These may include:
- Staying well-hydrated (to help prevent pain)
- Avoiding extreme hot or cold temperatures
- Avoiding high altitudes (flying, mountain climbing, etc.)
- Avoiding situations that cause low oxygen levels (excessive exercise, etc.)
- Washing hands frequently to reduce risk of infection
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