Introduction:
Sickle cell anemia is commonly known as sickle cell disease or simply sickle cell. It is a hereditary illness in which the red blood cells acquire the form of a crescent or sickle. The sickle cells damage the red blood cells that carry oxygen from the lungs to all tissues in the body. These sickle cells become hard and sticky, thus slowing or blocking the blood flow, and Most individuals with this condition do not have a cure. Treatments can only alleviate discomfort and aid in the prevention of ill consequences. In addition, it could be dangerous, resulting in various complications such as organ damage, anemia, stroke, and other disabilities and being life-threatening.
Why Is It Called Sickle Cell Anemia?
Sickle cell anemia is named because when it affects red blood cells, they develop a kind of crescent or sickle-like shape, which causes them to be more damaged, ensuing in anemia, among others.
How Does Sickle Cell Anemia Occur?
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Sickle cell anemia damages red blood cells. Hemoglobin, a component found in red blood cells, becomes dysfunctional in persons with sickle cell anemia, causing the red blood cells to alter their structure. The faulty hemoglobin is called hemoglobin S (HgbS) and replaces normal hemoglobin.
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It is passed down when a kid inherits two sickle cell genes, one from each parent, which means they inherit two defective hemoglobin, known as hemoglobin S, one from each parent.
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An individual who receives only one gene is considered healthy and is referred to be a "carrier" of the illness. If a carrier has a kid with another carrier, the probability of producing offspring with sickle cell disease increases
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Parents can't pass sickle cell anemia to their children unless both have defective hemoglobin in their red blood cells.
What Are the Different Types of Sickle Cell Anemia?
Four main types of sickle cell anemia resulting from a gene mutation.
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Hb (Hemoglobin) SS Disease: This is the most frequent and severe kind, in which the person receives the hemoglobin s gene from both parents.
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Hb (Hemoglobin) SC Disease: This is the second most prevalent and milder kind. Their symptoms are similar to those of those with Sickle cell anemia.
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Hb (Hemoglobin) SB + (beta) Thalassemia: This is the third most prevalent and is not severe. Hemoglobin S beta-thalassemia is caused by a hereditary mutation in the Hb S gene.
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Hb (Hemoglobin) SB 0 (Beta-zero) Thalassemia: The fourth kind has severe symptoms and a bad prognosis. Additionally, the beta-globin gene is affected. This one has effects similar to Hb SS anemia.
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Hb (Hemoglobin) SD, Hb (Hemoglobin) SE, and Hb (Hemoglobin) SO: They are rare and usually do not cause severe symptoms.
What Are the Symptoms and Indicators of Sickle Cell Anemia?
Around six months of age, sickle cell anemia usually begins to show signs and symptoms. This varies considerably from person to person and may change over time. The following are among some of the signs and symptoms:
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Anemia - Because sickle cells die quickly, the body has only a limited number of red blood cells. This might cause anemia by inducing shortness of breath, weakness, and dizziness.
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Pain in Different Areas - This happens when the blood circulation to a region is obstructed because sickled cells have been clogged in the blood vessel. This generates pain in your chest, abdomen, joints, and bones.
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Frequent Infections - Sickle cells can cause tissue damage, making you more susceptible to infections.
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Vision Problems - Obstructions cause blindness in the arteries that supply the eyes. This can result in retinal damage.
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Stunted Growth - Delayed growth is common in these patients. Children are usually shorter but grow taller by the time they reach maturity. Sexual maturation can also be slowed.
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Stroke - The distorted cells can potentially obstruct the brain's major blood vessels that deliver oxygen. Disturbances in blood and oxygen flow to the brain can cause severe brain injury.
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Life-threatening Infections - They have the potential to spread illnesses, which can be dangerous.
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Jaundice - Before the liver can filter them out. Sickle cells die quickly. Bilirubin from these broken-down cells accumulates in the system, resulting in jaundice.
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Blood Clots - When the blood vessels are clogged, they could lead to a blood clot.
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Swelling in Hands and Feet - The restricted blood supply can cause this.
What Is the Possible Diagnosis?
In addition to a thorough medical history and physical examination, you may be subjected to blood and other testing.
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Prenatal and Newborn Screening: This might be done to detect the presence of this character during the prenatal and postnatal periods.
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Blood Tests: Several blood tests, like to determine the hemoglobin count, gene carrying, or having the trait for abnormal hemoglobin can be detected.
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Hb (Hemoglobin) Electrophoresis: This test determines the various forms of hemoglobin in the blood.
What Options Are There for Treatment?
Treatment helps minimize organ damage, such as strokes, infections, and symptoms. Effective treatments may include:
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Bone Marrow Transplantation: This can only be cured by bone marrow or stem cell transplantation. The choice to undergo this treatment is influenced by the severity of the disease and the availability of a suitable bone marrow donor. These decisions must be discussed with your doctor and can only be made at specialized medical facilities.
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Antibiotics: They are primarily administered to prevent infections.
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Pain Relief Medication: This medication eases the pain and discomfort caused by this condition.
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Hydroxyurea: This medication helps to alleviate discomfort. It may also aid in reducing the need for blood transfusions. However, the long-term effects of these are uncertain.
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Vaccinations: Getting vaccinations can help prevent further infections
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Blood Transfusions: In case of severe anemia. Having had some serious complications, such as a stroke, you may require transfusions to prevent further complications.
Conclusion
Sickle cell anemia is a blood disorder that damages red blood cells. It is a disorder with an autosomal recessive inheritance pattern; red blood cells form a crescent or sickle-like shape. As a result, they are readily damaged, resulting in anemia and blood clots. There are various subtypes of this illness. There is no treatment because it is hereditary. Instead, several blood tests are required to diagnose it. Sickle cell disease is treated with pain relievers as needed, as well as blood transfusions and immunizations to prevent it. To maintain as much health as feasible, make sure you obtain regular medical treatment, maintain a healthy lifestyle, and avoid situations that might trigger a pain crisis.
