Sickle cell disease is an inherited red blood cell disorder that affects hemoglobin (the molecule in red blood cells that give or deliver oxygen to the cells throughout the body). It affects 100,000 people in the United States and 20 million people around the globe.
Healthy red blood cells are round and move/pass-through small blood vessels that carry oxygen to all body parts. People having sickle cell disease or disorder have typical hemoglobin molecules called hemoglobin S particles, which can destroy red blood cells and make them sickle.
Red blood cells in sickle cell disease become hard and sticky in C-shaped. The sickle cells die early, which causes the insufficiency of red blood cells. Healthy red blood cells can live up to 120 days, and sickle cells can only live for 10 to 12 days. They move in small blood vessels, are stuck on them, and make clots that clog the blood flow.
Sickle cells may damage or destroy the spleen because of their shape, stiffness, or hardness. The spleen helps filter the blood from infections, and sickle cells are stuck in the spleen filter and die. When healthy red blood cells are less in the body, you become anemic. When the sickle cells destroy the spleen, it increases the risk of getting an infection quickly.
Causes of sickle cell disease
It is an inherited disease that is caused by a gene defect.
- A person is born with sickle cell disease due to two inherited genes—one from the mother and the second from the father.
- A person who inherits only one gene is healthy and said to be a carrier of diseases. A carrier gene has an increased risk of a child getting sickle cell disease if they are a child of another carrier.
There is a 25% chance or risk of having a child with sickle cell disease for parents who are both carriers of a sickle cell gene.
Symptoms of sickle cell disease
Symptoms of this disease can vary; some of them are as follows;
- Anemia: As we know that sickle cells destroy or short-live and fewer red blood cells are available in the body, which causes anemia. Severe or complicated anemia can cause or make you dizzy, have shortness of breath, and have fatigue.
- Sickle crisis: It is caused by blockage of blood vessels where the sickle cells are stuck and reduce or interfere with blood flow. Pain occurs when blockage of blood vessels appears in the chest, arms, and legs. Infants and young children may experience painful swelling in the finger and toes. Interference of blood flow can cause tissue death.
- Acute chest aliment: Acute chest syndrome appears when the sickling occurs in the chest and can be life-threatening. It happens suddenly when the body is under stress from fever, infection, or dehydration. Sickle cells twig together and block the oxygen supply to the lung’s vessels. It looks like pneumonia and can cause fever, pain, and an intense cough.
- Splenic sequestration: Splenic sequestration occurs when sickle cells pool in the spleen. It can cause a sudden or immediate drop in hemoglobin and be life-threatening if left untreated. The spleen can be enlarged and painful from the increase in blood volume. After frequent episodes, the spleen becomes permanently damaged and scarred. Most children at age eight do not have a working or efficient spleen either due to surgery or from frequent episodes of splenic sequestration. Without the excellent work of the spleen, children are at high risk of getting an infection that can become the primary cause of their death.
- Stroke: It is also an instant and severe complication found in patients effected with this disease. It happens when sickle cells block the main blood vessels that supply oxygen to the brain. Interference in the blood flow and oxygen to the brain can cause severe brain damage. If the first stroke is attacked by sickle cell anemia, then the chances of a second stroke may increase.
- Jaundice: Jaundice is the most common sign of sickle cell disease. Sickle cells are short-lived as compared to healthy red blood cells. Therefore, they die more rapidly than the liver can filter or purify them. Bilirubin of these damaged cells builds up in the system and causes jaundice.
- Priapism: Sickle cell causes painful blockage of blood vessels in the penis. If it is not treated, it can cause infertility.
- Fever: If fever is more than 101 degrees Fahrenheit in children and young adults caused by sickle cell disease, we must treat it immediately to avoid any further complications.
Signs and symptoms of sickle cell disease look like blood disorders and medical problems.
Diagnosis
Early diagnosis and treatment can lower the risk of disease and its complications. After a complete medical history and physical exam, there is also a need to conduct blood and other tests for diagnosis (routine screening) of newborns for the sickle cell that will also help in the initiation of the treatment as soon as possible. A blood test is hemoglobin electrophoresis to identify if a person is a sickle cell carrier or any disease related to the sickle cell gene.
Risk factors
- An individual having a family history of sickle cell disease may be at a higher risk of suffering from this disease.
Treatment of sickle cell disease
Early diagnosis, treatment, and prevention are helpful to stay healthy. The doctor will see your age, overall health, and other factors to prescribe the best medicine. Treatment is intended to prevent organ damage such as stroke, prevent infection, and treat symptoms. Following are the treatment options;
- Pain medications: Painkillers are used to reduce sickle cell disease.
- Drink plenty of water: To prevent and treat the pain crisis, drink 8 to 10 glasses of water daily. In some severe conditions, it may be given by intravenous fluid to fulfill the need.
- Blood transfusion: It may help in the prevention of stroke and treat anemia. In blood transfusion, sickle cell hemoglobin is diluted with normal healthy hemoglobin to treat acute chest syndrome, chronic pain, and splenic sequestration.
- Vaccination and antibiotics: These are used for the protection or prevention of infection.
- Folic acid: Folic acid is used to treat severe anemia.
- Hydroxyurea: This medicine is used to treat pain and acute chest syndrome. It also helps in decreasing blood transfusion.
- Regular eye checkup: An eye exam is used to screen for retinopathy.
- Bone marrow transplant: This procedure is utilized in case of the severity of the disease. A bone marrow transplant can treat people with sickle cell disease that can be done at specialized medical centers.
Complications
Following body organs can be affected by sickle cell disease;
- Liver
- Kidney
- Heart
- Eyes
- Bones
- Gallbladder
- Joints
Sickle cell disease can cause the following severe complications;
- Leg ulcer
- Infections
- Bone damage
- Gallstone
- Kidney damage
- Loss of body water by urine
- Eye damage
- Multiple organ damage
- Delayed growth and puberty
- Severe anemia
- Pregnancy issues
References:
- https://www.cdc.gov/ncbddd/sicklecell/facts.html retrieved on April 19, 2022.
- https://www.hopkinsmedicine.org/health/conditions-and-diseases/sickle-cell-disease retrieved on April 19, 2022.
- https://www.nhlbi.nih.gov/health/sickle-cell-disease retrieved on April 19, 2022.
- https://my.clevelandclinic.org/health/diseases/4579-sickle-cell-anemia retrieved on April 19, 2022
