Sickle cell disease (SCD) is a group of hereditary red blood cell disorders. Sickle cell anemia is a type of SCD that occurs when a person inherits a gene that contains code for an atypical form of hemoglobin from each of their biological parents.
Sickle cell anemia is typically the
These cells die earlier than usual, which causes a constant shortage of red blood cells. Additionally, the cells can get stuck in smaller blood vessels and block the flow of blood. This may cause pain and lead to other serious health complications, including a stroke, infection, and acute chest syndrome.
This article discusses the genetic mutation that causes sickle cell anemia, who is most at risk of developing the condition, and when a person needs to contact a doctor.
Sickle cell anemia occurs when a person
A typical HBB gene produces red blood cells with hemoglobin-A. These cells are smooth, round, and able to pass through the blood vessels with ease.
When a person has sickle cell anemia, they inherit two HBB genes — one from each biological parent — that have a mutation that codes for hemoglobin-S instead. Red blood cells that contain hemoglobin-S are hard and sickle-shaped. These cells can build up and block the blood vessels, causing damage to vital tissue and organs.
If both biological parents carry the HBB gene with the mutation that produces hemoglobin-S, there is a
If a person inherits one HBB gene with the mutation that produces hemoglobin-S and one typical HBB gene that produces hemoglobin-A, there is a 50% risk that they will carry the sickle cell trait (SCT).
People with SCT do not usually develop symptoms of SCD, but in rare cases, they may develop health problems. Additionally, if someone with SCT has children, they may also inherit the HBB gene with the mutation that produces hemoglobin-S.
SCD is more prevalent among certain ethnic groups. Approximately
People from Hispanic American, Southern European, Middle Eastern, or Asian Indian backgrounds may also be more at risk of developing SCD.
A person with SCD may experience health disparities, which the Centers for Disease Control and Prevention (CDC) Foundation define as worse health outcomes in comparison with other diseases and access to fewer health resources.
These health disparities may include:
- Life expectancy: A person with sickle cell anemia typically has a life expectancy that is 30 years shorter than someone without SCD.
- Hospital visits: People with SCD have the highest rates of needing to return to the hospital within 30 days of a doctor discharging them in comparison to other health conditions.
- Rate of stroke: An African American person between the ages of 35 and 64 with SCD is three times more likely to have a stroke than an African American person of a similar age without the condition.
- Medicaid: Most of the people in the U.S. with SCD receive Medicaid. However, less than 70% of doctors in the U.S. accept new beneficiaries of Medicaid. It can therefore be difficult for a Medicaid beneficiary with SCD to receive the appropriate medical care.
In some cases, someone with SCD
A person with SCD may experience several serious health complications that can appear suddenly. They need to call 911 immediately if they experience any of the following complications:
- severe headache
- fever above
- sudden weakness or numbness
- chest pain
- difficulty breathing
- swelling in the abdomen
- painful erection of the penis that lasts more than 4 hours
Additionally, a person with SCD needs to contact a doctor immediately if they experience pain in any part of the body that does not improve with home treatment. They also require medical attention if they experience sudden vision issues.
Sickle cell anemia is the most severe form of SCD. It occurs when a person inherits a hemoglobin-Beta gene with a mutation that codes for hemoglobin-S from each of their parents.
Red blood cells containing hemoglobin-S are hard and resemble the shape of a sickle. These cells can build up and cause blockages in the blood vessels, causing pain and serious health complications.
SCD disproportionately affects people who identify as Black or have African ancestry. It may also affect people from Hispanic American, Southern European, Middle Eastern, or Asian Indian backgrounds.
A person can speak with a doctor for advice about how to manage their condition. If someone with SCD experiences a sudden onset of symptoms, such as a high fever, chest pain, or difficulty breathing, they should call 911 immediately.