Sickle Cell Disease – Symptoms and Causes
Sickle Cell Disease – Symptoms and Causes – Sickle cell anemia is one of a group of disorders known as sickle cell disease. Sickle cell anemia is an inherited red blood cell disorder in which your body does not have enough healthy red blood cells to carry oxygen.
Generally, flexible, round red blood cells move easily through blood vessels. In sickle cell anemia, the red blood is sickle or crescent shaped like a moon. These hard, sticky cells can get trapped in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.
There is no cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent complications associated with the disease.
Symptoms – Sickle Cell Disease – Symptoms and Causes
Signs and symptoms of sickle cell anemia usually appear around the age of 5 months. They change from one person to another and change over time. Signs and symptoms may include:
Anemia Sickle cells easily dissociate and die, leaving you with very few red blood cells. Red blood cells usually live for about 120 days, before they must be replaced. But sickle cells usually die in 10 to 20 days, leading to a shortage of red blood cells (anemia).
Without enough red blood cells, your body cannot get enough oxygen, which leads to fatigue.
Episodes of pain. Periodic episodes of pain, called pain distress, are a major symptom of sickle cell anemia. Pain develops when sickle-shaped red blood cells block blood flow to your chest, abdomen, and joints through small blood vessels. There may also be pain in your bones.
The pain varies in intensity and may last from a few hours to a few weeks. Some people have only a few pains a year. Others experience a dozen or more pains a year. A severe pain crisis requires a hospital stay.
Some adolescents and adults with sickle cell anemia also have chronic pain, which can result in bone and joint damage, ulcers, and other causes.
Swelling of hands and feet. Inflammation is caused by sickle-shaped red blood cells that block blood flow to the hands and feet.
Frequent infection. Sickle cells can damage your spleen, causing you to fall prey to infections. Doctors usually give sickle cell anemia vaccinations and antibiotics to infants and children to prevent potentially life-threatening infections, such as pneumonia.
Delayed growth or puberty. Red blood cells provide your body with the oxygen and nutrients needed for growth. Lack of healthy red blood cells can slow growth in infants and children and delay puberty in adolescents.
vision problems. The small blood vessels that supply your eyes may become plugged with sickle cells. This can damage the retina – the part of the eye that processes visual images – and lead to vision problems.
A blood test can check for a defective form of hemoglobin that undergoes sickle cell anemia. In the United States, this blood test is part of routine neonatal screening. But older children and adults can also be tested.
In adults, a blood sample is taken from a vein in the arm. In young children and infants, a blood sample is usually collected with a finger or heel. The specimen is then sent to a laboratory, where it is tested for defective hemoglobin.
If you or your child has sickle cell anemia, your doctor may suggest additional tests to check for possible complications of the disease.
If you or your child carries the sickle cell gene, you will be referred to a genetic counselor.
Sickle Cell Disease (Sickle Cell Anemia) – Types
Hemoglobin is a protein in red blood cells that carries oxygen. It usually consists of two alpha chains and two beta chains. There are four main types of sickle cell anemia due to various mutations in these genes.
Hemoglobin ss disease
Hemoglobin SS disease is the most common type of sickle cell disease. This is when you get copies of the hemoglobin S gene from both parents. This hemoglobin is known as HB SS. As the most severe form of SCD, individuals with this form also experience the worst symptoms at a high rate.
Hemoglobin sc disease
Hemoglobin SC disease is the second most common type of sickle cell disease. This is when you get the HB C gene from one parent and the HB S gene from the other. Individuals with HB SC have similar symptoms to individuals with HB SS. However, anemia is less severe.
Hemoglobin SB + (beta) thalassemia
Hemoglobin SB + (beta) thalassemia affects beta globin gene production. Red blood cell size decreases as less beta protein is produced. If inherited with the HB S gene, you will have hemoglobin S beta thalassemia. The symptoms are not as severe.
Hemoglobin SB0 (beta-zero) thalassemia
Sickle beta-zero thalassemia is the fourth type of sickle cell disease. It also contains the beta globin gene. This is a symptom similar to HB SS anemia. However, sometimes beta zero thalassemia symptoms are more severe. It is associated with a poor prophylactic.
Hemoglobin SD, hemoglobin SE, and hemoglobin SO
This type of sickle cell disease is more rare and usually does not have severe symptoms.
sickle cell trait
Those who receive the mutated gene (hemoglobin S) from only one parent are called sickle cell traits. They may not have any symptoms or fewer symptoms.
Causes – Sickle Cell Disease – Symptoms and Causes
Sickle cell anemia is caused by a mutation in the gene that tells your body to make iron-containing compounds that make blood red and enable red blood cells to carry oxygen from your lungs to your body (hemoglobin). . In sickle cell anemia, abnormal hemoglobin causes red blood cells to become stiff, viscous, and mihapen.
Both the mother and father must pass the defective form of the gene to the affected child.If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait. With a common hemoglobin gene and a defective form of the gene, those with a sickle cell trait make both normal hemoglobin and sickle cell hemoglobin.They may have some sickle cells in their blood, but they usually do not have symptoms. They are carriers of the disease, however, meaning they can pass the genes on to their children.
Treatment – Sickle cell anemia : Treatment
The management of sickle cell anemia is usually aimed at avoiding episodes of pain, relieving symptoms, and preventing complications. Treatment may include medications and blood transfusions. For some children and adolescents, stem cell transplantation can cure the disease.
Hydroxyurea (Droxia, Hydria, Ciclo). Daily hydroxyurea reduces the frequency of painful distress and may reduce blood transfusion and the need for hospitalization. It can also increase your risk of infection. Do not take medicine if you are pregnant.
L-Glutamine Oral Powder (Andari). The drug was recently approved by the FDA to treat sickle cell anemia. This helps reduce the frequency of pain distress.
Krizanlizumab (Adakwe). The drug was recently approved by the FDA to treat sickle cell anemia. Delivered through a vein, it helps reduce the frequency of pain distress. Side effects may include nausea, joint pain, back pain, and fever.
Pain relieving drugs. Your doctor may prescribe narcotics to help relieve pain during sickle cell pain crisis.
Voxelotor (Oxbryta). The Food and Drug Administration (FDA) recently approved this oral drug to improve anemia in people with sickle cell disease. Side effects may include headache, nausea, diarrhea, fatigue, rash, and fever.