Sickle Cell Anemia its Symptoms and Diagnosis
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Sickle cell anaemia is one of several genetic illnesses known as sickle cell disease. It alters the shape of red blood cells, which transport oxygen throughout the body.Red blood cells are typically spherical and flexible, allowing them to travel freely through blood channels. Some red blood cells in sickle cell anaemia have the shape of sickles or crescent moons. These sickle cells also become hard and sticky, slowing or blocking blood flow.Symptoms of sickle cell anaemia commonly occur around the age of 6 months. They differ from person to person and may alter over time.
Signs and symptoms may include: Anemia Sickle cells easily disintegrate and die. Red blood cells typically last about 120 days before needing to be replaced. However, sickle cells normally die within 10 to 20 days, resulting in a lack of red blood cells (anemia). Without enough red blood cells, the body cannot receive adequate oxygen, resulting in weariness.
Painful episodes Pain crises, which occur on a regular basis, are a primary symptom of sickle cell anaemia. Pain occurs when sickle-shaped red blood cells obstruct blood flow to your chest, abdomen, and joints via tiny blood arteries.
The degree of the pain varies and might persist from a few hours to a few days. Some people only have a few pain crises every year. Others have several dozen or more per year. A hospital stay is required in the event of a serious pain crisis.
Chronic pain can arise from bone and joint degeneration, ulceration, and other causes in certain teens and adults with sickle cell anaemia.
Swelling of hands and feet. Swollen hands and feet are caused by sickle-shaped red blood cells that impede blood circulation.
Recurrent infections Sickle cells can disrupt the spleen, making it more vulnerable to infections. Vaccinations and antibiotics are regularly given to infants and children with sickle cell anaemia to prevent potentially fatal illnesses such as pneumonia. Prolonged puberty or growth. Red blood cells are responsible for transporting oxygen and nutrients throughout the body. Deficiency of healthy red blood cells can affect neonatal and toddler growth and cause teenagers to miss puberty.
Vision issues Sickle cells can clog tiny blood arteries that supply the eyes. This can harm the retina and cause vision issues.
Diagnosis
A full blood count in HbS reveals haemoglobin levels in the 6-8 g/dl range with a high reticulocyte count (as the bone marrow compensates for the destruction of sickled cells by producing more red blood cells). Hb levels are typically higher in other kinds of sickle cell disease. A blood test may reveal hyposplenism symptoms (target cells and Howell-Jolly bodies).The addition of sodium metabisulfite can cause sickling of red blood cells on a blood film. The "sickle solubility test" can also be used to detect the presence of sickle haemoglobin (also called "sickledex"). Haemoglobin S (HbS) in a reducing solution (such as sodium dithionite) produces a murky solution, whereas regular Hb produces a clear solution.Abnormal haemoglobin forms can be discovered via haemoglobin electrophoresis, which is a sort of gel electrophoresis in which different types of haemoglobin move at different speeds. From there, the two most frequent kinds of sickle cell haemoglobin (HgbS) and sickle cell haemoglobin (HgbSC) can be determined. High-performance liquid chromatography can be used to confirm the diagnosis. Genetic testing is rarely used because other tests are very specific for HbS and HbC. Infection is frequently the cause of an acute sickle cell crisis. As a result, a urinalysis to detect an occult urinary tract infection and a chest X-ray to screen for occult pneumonia should be conducted on a regular basis. People who are known carriers of sickle cell anaemia or who are at risk of having a child with the disease may benefit from genetic counselling. Genetic counsellors consult with families about the advantages, disadvantages, and practicalities of genetic testing choices, as well as the potential impact of testing and test results on the individual. During pregnancy, genetic testing can be performed on either a foetal blood sample or an amniotic fluid sample. Chorionic villus sampling (CVS) is another technique utilised for SCD prenatal diagnosis during the first trimester of pregnancy.Because collecting a blood sample from a foetus is riskier, the latter test is commonly utilized. Neonatal screening, also known as newborn screening, not only allows for the early detection of sickle cell illness but also allows for the identification of groups of people who carry the sickle cell trait.