In this article, we’ll discuss the four main symptoms of sickle cell anemia and why you should be concerned. These include: Anemia, Pleiotropy, Delayed growth, and Vascular dysfunction. Then we’ll move on to more specific details about sickle cell crisis. If you’ve ever suffered from sickle cell crisis, you probably understand the importance of early diagnosis. But how can you recognize if you’re suffering from it?
Anemia
The treatment for sickle cell disease depends on the severity of the symptoms, the age of the child, and their overall health. Early diagnosis is crucial to the success of treatment. In addition to a comprehensive blood analysis, doctors can perform a stem cell transplant to cure some children with SCD. Only a select few medical centers perform this procedure. In the meantime, hydroxyurea can reduce sickle cell count and reduce the risk of painful episodes and hospital stays. Depending on the type and severity of sickle cell anemia, blood transfusions may be required to treat the effects of anemia, such as anemia, chronic pain, splenic sequestration, or acute chest syndrome.
A spleen enlargement is another cause of sudden anaemia in children with SCD. The enlarged spleen, located in the abdomen, can be felt by parents and may signal the need for immediate treatment. Severe anemia, which occurs when the blood goes to the spleen, can make an otherwise healthy person very ill. The spleen enlargement may require lifelong treatment and monitoring, so it is important to know your child’s spleen’s size and shape.
Pleiotropy
Some of the most well-known cases of pleiotropy are those of sickle cell anemia and malaria. These diseases share similarities in that they are caused by a mutation in one gene. One example is the Hb-S allele, which confers both advantages and disadvantages on affected individuals. Homozygous carriers tend to be very short-lived. However, heterozygous carriers do not show the negative symptoms associated with this disease. Furthermore, the Hb-S allele is associated with increased resistance to malaria, and in areas of high malaria transmission.
Humans can have pleiotropy if they are genetically predisposed. In sickle cell disease, the beta chain of the hemoglobin protein is mutated, causing the red blood cells to be deformed. The deformed blood cells can hinder blood circulation, and damage organs such as the kidneys and bones. Although this condition affects only the blood, the consequences are widespread.
Vascular dysfunction
Vascular dysfunction is a consequence of sickle cell anemia. In the steady-state state of the disease, endothelial cells were significantly elevated compared to normal controls. However, these cells showed an increase in activity when exposed to acute painful crises. Consequently, the study suggested that circulating endothelial cells may be an effective tool to investigate vascular dysfunction in sickle cell anemia.
In SCA, the cells are inefficient at transporting oxygen to the tissues. This leads to membrane vesicle formation. HbS, the anti-hemoglobin protein, can reverse the rigidity of the outer leaflet. It also interacts with vascular cell adhesive molecule-1, or VCAM-1. Moreover, hypoxia promotes the expression of VCAM-1, which is responsible for the formation of sickle cells.
Delayed growth
Among the signs and symptoms of sickle cell anemia, delayed growth is one of the most common. Delayed growth is usually the result of anemia, a chromosomal disorder characterized by red blood cells. Typically, it develops during infancy, though it may occur as early as childhood. During childhood, it can progress to adulthood without treatment.
People with sickle cell anemia often experience sudden weakness on one side of their bodies, pain in the upper left belly, and enlarged spleen. Children may also develop painful erections. In older adults, about 35% of people with this condition develop leg ulcers. These sores, often on the ankles, are not easily healed. Affected people may have trouble breathing when resting.
Leg ulcers
Leg ulcers are a common complication of sickle cell anemia, a rare but serious inherited disorder characterized by a high incidence of venous thromboembolism. Leg ulcers usually occur on the lower extremities of the affected person, with the anterior shin and the dorsum of the foot being most commonly affected. The underlying cause of leg ulcers is unknown, but increased venous pressure and marginal blood flow at the site may be contributing factors. The development of leg ulcers can mimic Felty’s syndrome. Studies have indicated that the medial leg is more commonly affected, although CSSCD did not find any difference between lateral and medial legs.
Pain associated with leg ulcers is often severe, impairing local therapies and inhibiting healing. Nonsteroidal anti-inflammatory drugs are often insufficient for optimal pain control. Topical opioids may improve pain management and increase healing rates in mice with sickle cell anemia. In addition to topical opioids, some experts recommend performing regional nerve blocks, which can increase vascular oxygenation and provide secondary vasodilation.
Stem cell transplantation as the only cure for sickle cell anemia
The first successful stem cell transplantation in an adult with sickle cell anemia was performed by doctors at the University of Illinois at Chicago. During the procedure, stem cells from a tissue-matched sibling were transplanted into the patient. The patient receives healthy new blood cells, and sickle cell disease symptoms disappear. After the procedure, a patient must continue taking immunosuppressant drugs for one year.
Treatment for sickle cell anemia generally includes antibiotics to prevent life-threatening infections. Various therapies may include blood transfusions to increase the number of normal red blood cells in the body. Pain medication is also often administered to treat sickle cell crisis and anemia. The University Hospitals Seidman Cancer Center provides advanced treatment for this disease, including stem cell transplantation. For patients with advanced sickle cell anemia, stem cell transplantation could be the only treatment available.
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