Sickle cell anemia is an inherited condition that impacts red blood cells. It can cause a variety of symptoms, which may include anemia, infections, and blockages in blood vessels.
Sickle cell disease (SCD) refers to a group of inherited conditions that affect red blood cells (RBCs), which are one of the main components of blood. RBCs are responsible for carrying oxygen from the lungs to the rest of the body.
There are several types of SCD, and sickle cell anemia is usually the most severe form of the condition. The specific type of SCD a person has will depend on the genes they inherit from their parents. The genes a person inherits will provide instructions for hemoglobin that does not function correctly.
As the RBCs are unable to function properly, a person may experience a variety of symptoms, such as anemia, pain, recurring infections, and organ damage.
Sickle cell anemia is one of the more common and most severe types of SCD. It occurs when a person inherits a gene from each parent that produces an abnormal form of hemoglobin. This is the protein in RBCs that helps deliver oxygen to tissues.
This gene variation causes RBCs to become rigid and sickle-shaped. This prevents them from functioning correctly and results in the symptoms of sickle cell anemia.
As SCD is an inherited condition, it means a person is born with it. However, a person may not present with any problems until they are about 5–6 months of age. Symptoms can vary from person to person and may change over time. How SCD affects the body will determine which symptoms a person experiences.
According to the National Heart, Lung, and Blood Institute (NHLBI), the early symptoms of SCD
People with SCD will usually present with symptoms within the first year of life. Symptoms and complications of SCD are different for each person and can vary from mild to severe.
As the name suggests, anemia often occurs with sickle cell anemia. However, anemia itself is not a symptom, but rather a condition.
Anemia occurs when there are not enough healthy RBCs present to carry oxygen around the body. Due to their abnormal sickle shape, these types of RBCs are not only unable to effectively carry oxygen, but they also die early.
As such, when a person has anemia, they may experience the
- pale skin color
- rapid heart rate
- difficulty breathing
- delayed puberty
- slow growth
People living with SCD are more likely to experience infections. This is because the spleen helps to fight off infections. However, the spleen does not typically work as well in people living with SCD.
A fever is often the first sign of infection or other SCD-related complications a person may experience. Infections can cause severe complications in those with SCD, particularly in children. As such, health experts typically consider a fever in a person with SCD a medical emergency. Therefore, if a person with SCD experiences a fever, it is highly advisable to consult a healthcare professional.
Acute chest syndrome (ACS) refers to the sudden onset of respiratory symptoms that can occur with SCD. It is a life threatening complication of SCD that occurs when sickle-shaped RBCs block blood vessels in the lungs.
Symptoms of ACS can include:
- chest pain
- shortness of breath
- tightness in the chest
- breathing very fast
As sickle-shaped RBCs are rigid and often clump together, they cannot move easily through blood vessels. This can
People use the
- face drooping
- arm weakness
- speech difficulty
- time to call 911
People with SCD may experience two main types of priapism: stuttering or fulminant priapism.
Stuttering priapism refers to an erection that may last for up to an hour and occurs on several occasions. It may get better on its own and should not require further medical treatment. A fulminant priapism describes a painful erection that lasts for more than an hour. A person will typically require urgent medical assistance to prevent permanent damage, such as impotence.
SCD occurs when a person inherits genes from both parents that affect the shape and function of hemoglobin. To develop sickle cell anemia, a person must inherit a copy of sickle hemoglobin (HbS) from both parents. If a person inherits HbS from one parent and another hemoglobin variant from another parent, they will develop a different type of SCD.
However, if a person inherits one HbS copy and a healthy hemoglobin gene, they will be able to produce functioning hemoglobin. This means they will typically not experience any health problems or symptoms of SCD. This is known as sickle cell trait.
While a person with sickle cell trait is unlikely to experience symptoms of SCD, they
If a person wants to know whether they carry an HbS gene, they can undergo a blood test. If people have concerns about passing the HbS gene onto their offspring, they can meet with a genetic counselor who can answer questions about the risk and explain the available choices.
Sickle cell anemia is a type of sickle cell disease. It occurs when a person inherits genes that produce abnormal hemoglobin. As a result, red blood cells develop a sickle shape and are unable to function correctly.
This can result in a variety of symptoms that may differ from person to person and range in severity. In addition to experiencing anemia, some of the more common symptoms of sickle cell anemia include jaundice, dactylitis, fever, breathing problems, stroke, and priapism.