Sickle cell disease (SCD) is a group of medical disorders affecting red blood cells. Each type of SCD is different, but all are characterized by abnormal proteins causing damage to red blood cells.
A patient cannot develop SCD. The condition is present from birth and lasts for the patient’s entire life. Sickle cell disease is a hereditary condition passed to children by their parents. Patients are most likely to have sickle cell disease if they are of African American or Hispanic descent.
Diagnosing sickle cell disease is often easy because genetic testing is performed in infancy routinely in American hospitals, even if there is no family history of the disease.
However, it can go unnoticed for months or a few years if the birth occurs in a country where no test is performed. The earlier sickle cell is diagnosed, the easier it is to control the symptoms of the disease. Below is more information about sickle cell causes, symptoms and treatments.
Sickle cell disease is caused by an inherited gene mutation affecting the shape of the red blood cells and the hemoglobin inside those cells. When a child inherits a gene called hemoglobin S from only one parent the child is a carrier of sickle cell trait. It is possible but rare for the child to have symptoms of sickle cell disease when he or she only inherits one gene. However, he or she can pass the sickle cell gene on to his or her offspring.
To develop SCD symptoms, a child must inherit the hemoglobin S gene from one parent. The other parent must be a carrier of the sickle cell trait as well. Alternatively, he or she may carry another abnormal gene affecting hemoglobin development. Such genes include:
Normal red blood cells are responsible for distributing oxygen throughout the body. They are shaped like discs, allowing them to slide along the tunnel-like pathways created by blood vessels. Sickle cells are C-shaped. Their elongated strand-like structures and curved ends allow them to become caught in blood vessels and tangle together. This process creates blockages within the blood vessels, disrupting blood flow and oxygenation.
The first symptoms of sickle cell disease typically occur at approximately 6 months of age. One early symptom is jaundice, or a yellowing of the skin. It is sometimes accompanied by icterus or yellowing of the child’s eyes. Sickle cells also block blood flow to and from extremities, which causes early swelling of feet and hands. This is called dactylitis.
Another potential early symptom of sickle cell disease is Anemia. Anemia is a condition where not enough red blood cells are present in the body because they are destroyed by SCD. It is such a common symptom of sickle cell disease, SCD is often called sickle cell anemia. However, anemia is not always present in all forms of SCD, and you can have anemia or an iron deficiency, even if you do not have SCD. When it is present, it causes multiple symptoms in infancy and during a child’s early years. Some of those symptoms include:
SCD also increase the risk of bacterial infections, especially during infancy and early childhood. Pneumonia is a leading cause of early death due to SCD complications. A child with SCD must get vaccinated to reduce infection risks. Hand washing and sterilization of his or her environment can also protect against infection. Additionally, his or her doctor may prescribe long-term antibiotic treatment as a preventative measure.
As a child advances into adulthood, his or her sickle cell disease symptoms and complications may worsen. One common complication of SCD he or she may develop is vision impairment or blindness. It occurs when blood vessels leading to the eyes become blocked. The resulting retina damage and vision loss may be partial or total.
Nerve damage and organ damage or failure are also complications of SCD. They occur primarily when a patient is an adult. Organs and nerves are deprived of proper oxygenation throughout the patient’s life. This causes damage to occur over time. The result can be painful in early stages. In later stages, organ failure can occur. Organ damage can also worsen if the specific blood vessels leading to a certain organ, such as the liver, are blocked.
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If a sickle cell disease patient is male, he may also experience priapism. Priapism is a painful erection lasting for much longer than it normally does. It occurs when blood flow to the penis is restricted or cut off by blocked blood vessels. Priapism can cause irreversible damage to the penis, if left untreated. Other SPD complications that can occur in adulthood include:
As of 2018, the only cure for sickle cell disease is a blood and bone marrow transplant. According to the National Heart, Lung and Blood Institute, the procedure has approximately an 85 percent effectiveness rate. However, it causes death approximately five percent of the time. Additionally, the risks are higher for an adult patient, so it may only be recommended if the patient is young. If the patient is a potential candidate for the transplant, he or she must have a matching bone marrow donor in his or her family.
Transfusions are often used to treat sickle cell disease. They cannot cure the disease, but a patient who has frequent transfusions receives additional healthy red blood cells. The process helps to keep his or her organs supplied with oxygen for short periods. Ongoing transfusions can cause complications, including too much iron in the blood and infections. The patient must be carefully monitored for such complications during and after each procedure.
Most other treatments a sickle cell disease patient undergoes are not designed to treat the disease directly. Instead they help manage symptoms as those symptoms occur. For example, if he or she experiences pain, heating pads or pain medications can temporarily alleviate symptoms. Similarly, antibiotics are used to treat fevers caused by SCD.
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