Overview
Sickle cell disease (SCD) is an inherited blood disorder. Meaning it is passed down from parent to child, through the parents' genes.
Healthy red blood cells are round and move easily all over the body. With SCD, the red blood cells are hard and sticky. They are shaped like the letter C (and like a farm tool called a sickle). These damaged red blood cells (sickle cells) clump together. They can’t move easily through the blood vessels. They get stuck in small blood vessels and block blood flow. This blockage stops the movement of healthy oxygen-rich blood. This blockage can cause pain. It can also damage major organs.
Sickle cells die sooner than healthy cells. Normally the spleen helps filter infections out of the blood. But sickle cells get stuck in this filter and die. Having fewer healthy red blood cells causes anemia. The sickle cells can also damage the spleen. You are then at greater risk for infections
Causes/Risk Factors
SCD is an inherited disease caused by a defect in a gene.
You are born with SCD only if 2 genes are inherited—1 from each parent.
If you have just 1 gene you are healthy, but you are a carrier of the disease. If 2 carriers have a child, there is a greater chance their child will have SCD.
Parents who are each carriers of a sickle cell gene have a 1 in 4 chance of having a child with SCD.
Having a family history of SCD increases your risk for the disease. SCD mainly affects people whose families came from Africa and Hispanics whose families are from the Caribbean. But the gene has also been found in people whose families are from the Middle East, India, Latin America, and Mediterranean countries. It has also been found in Native American Indians.
Symptoms
Anemia: Having fewer red blood cells causes anemia in people with SCD. Severe anemia can make you feel dizzy, short of breath, and tired.
Pain Crisis (Sickle cell Crisis): As sickle cells move through small vessels, they can become stuck, leading to excruciating pain.The sudden pain can occur anywhere but most often happens in the chest, arms, and legs. This blockage can lead to tissue death.
Jaundice: this occurs when red blood cells die and they get flushed out by the liver. The yellow color is caused by a substance (bilirubin) that is released when the red blood cells die.
Acute Chest Syndrome: This is a potentially life-threatening situation in which sickle cells stick together and block oxygen flow in the tiny vessels in the lungs. It often happens suddenly, when the body is under stress from infection, fever, or dehydration. Symptoms may seem like pneumonia. They can include fever, pain, and a violent cough.
Stroke: People with sickle cell disease are at greater risk of suffering from strokes, which can result in permanent brain damage. A stroke from sickle cell disease increases the likelihood of subsequent strokes
Priapism: When these cells block blood vessels in the penis, it will cause pain and can lead to impotence if not addressed immediately.
Diagnosis
In the US newborns are regularly screened for SCD. Early detection and treatment can minimize the likelihood of complications. Hemoglobin electrophoresis is a lab test that can be performed to find out if an individual is a carrier.
In many African countries public health initiatives are currently being implemented to motivate adults who may have children to get testes for the SCD gene.
Treatment/Prevention
SCD treatment large depends on the individual's symptoms, age, and overall health.
It is imperative to diagnose SCD early and prevent complications such as strokes and infection. Symptom management is the goal in SCD.
Pain medicines: These are used for sickle cell crises.
Drinking plenty of water daily (8 to 10 glasses): Doing so can prevent and treat pain crises. In some cases, IV (intravenous) fluids may be needed.
Blood transfusions: These may help treat anemia and prevent stroke. They are also used to dilute the sickled hemoglobin with normal hemoglobin. It is done to treat chronic pain, acute chest syndrome, splenic sequestration, and other emergencies.
Vaccines and antibiotics: These are used to prevent infections.
Folic acid: This B vitamin helps prevent severe anemia.
Hydroxyurea: This medicine helps reduce the frequency of pain crises and acute chest syndrome. It may also help decrease the need for blood transfusions.
Voxelotor: This medicine is approved for people age 12 and older to reduce pain crises and improve anemia caused by red blood cell destruction.
Crizanlizumab: This medicine is approved for people age 16 and older to reduce pain crises.
L-glutamine: This medicine is approved for people age 5 and older to reduce pain crises.
Regular eye exams: These are done to screen for an eye condition called retinopathy.
Bone marrow transplant: A transplant can cure some people with SCD. The decision to have a transplant is based on the severity of the disease and finding a suitable donor. These decisions need to be discussed with your provider.
Complication
Increased infections
Leg ulcers or serious sores
Bone damage
Early gallstones
Kidney damage and loss of body water in the urine
Eye damage
Multiple organ failure
Reference
Sickle cell disease. StayWell. (n.d.). Retrieved February 6, 2023, from https://demo.staywellhealthlibrary.com/az-search/content/diseases-and-conditions/sickle-cell-disease/#overview