Sickle Cell Disease Causes, Prevention And Treatment Options

One of the genetic diseases known as sickle cell disease is sickle cell anemia. Red blood cells' structure, which transports oxygen to every region of the body, is affected.

Red blood cells are frequently spherical and flexible, and they may easily pass through blood vessels. Red blood cells with sickle- or crescent-shaped hemoglobin are indicative of sickle cell anemia. Moreover, the thick, sticky coating that forms on these sickle cells can obstruct or slow blood flow.

The majority of sickle cell anemia sufferers are terminal. Treatments can lessen pain and help patients avoid the negative effects of their diseases.

Causes

In sickle cell anemia, the gene that directs the body to generate hemoglobin, an iron-rich protein present in red blood cells, is changed. Hemoglobin helps red blood cells carry oxygen from the lungs throughout the body. Red blood cells that have sickle cell anemia are hard, sticky, and malformed due to the hemoglobin that is linked with the condition.

In order to transfer both of the child's copies of the altered sickle cell gene, also known as the sickle cell trait, both the mother and the father must each carry the sickle cell gene in one copy.

If just one parent carries the sickle cell gene, the child will receive the sickle cell characteristic. In the presence of one normal hemoglobin gene and one mutated gene. Sickle cell trait carriers produce both regular and sickle cell hemoglobin.

They may have some sickle cells in their blood, but they often do not exhibit any symptoms. Yet, because they have the condition, they can carry the gene to their offspring.

How to check if you have Sickle Cell Disease?

In the event that you or your children exhibit symptoms of sickle cell anemia, contact your doctor immediately. Get immediate medical assistance if a child has a temperature higher than 101.5 F because children with sickle cell anemia are more susceptible to infections, which frequently begin with a fever and can be fatal (38.5 C).

Please access medical assistance, if you have any stroke signs, including:

• Face, arms, or legs that are weakened or paralyzed on one side
• Confusion
• Walking or talking challenges 
• Rapid changes in eyesight
• Mysterious numbness
• Terrible headache

Risk Factors

A child cannot be born with sickle cell anemia unless both parents carry the sickle cell gene. In the United States, people with sickle cell anemia are most usually of African, Mediterranean, and Middle Eastern descent.

Symptoms

Sickle cell anemia symptoms often start to show at about 6 months of age. They can change through time and vary from one individual to another. These are a few of the symptoms and warning signs:

Anemia. Sickle cells readily disintegrate and expire. About 120 days should pass before red blood cells need to be replaced. Anemia is a condition when there are not enough red blood cells due to sickle cells, which typically only last 10 to 20 days.

Fatigue results from the body's inability to obtain adequate oxygen if there are not enough red blood cells.

Occurrences of pain. One of the main signs of sickle cell anemia is recurrent episodes of excruciating pain, sometimes known as pain crises. Sickle-shaped red blood cells block the flow of blood to your joints, abdomen, and chest, causing discomfort.

From a few hours to many days, the pain's intensity and duration may vary. Some people only have a few pain crises a year. Some individuals have twelve or more every year. A major pain crisis necessitates a hospital stay.

With sickle cell anemia, some teenagers and adults may have chronic pain, which can be brought on by ulcers, bone and joint degeneration, and other conditions.

Swelling of the feet and hands. Sickle-shaped red blood cells obstructing blood flow to the hands and feet are to blame for oedema.

Many infections. The spleen may get damaged by sickle cells, making it more susceptible to infections. Antibiotics and immunisations are frequently given to infants and children with sickle cell anemia to help them avoid potentially fatal illnesses like pneumonia.

Delayed puberty or development. The body receives the oxygen and nutrients it needs for development from the blood cells. A lack of healthy red blood cells can prevent teens from going through puberty and slow down newborns' and children's growth.

Vision issues. Sickle cells can clog the tiny blood arteries that feed the eyes. Vision problems may result from this injury to the retina, the part of the eye that processes visual images.

Prevention

Seeing a genetic counselor before starting a family can help you understand your risk of passing the sickle cell trait to a child. A genetic counselor can also go through potential cures, safeguards, and choices for conception.

Treatments

Treatment for sickle cell anaemia typically aims to cure symptoms, ease discomfort, and prevent consequences. Treatment options include medications and blood transfusions. A stem cell transplant may be able to reverse the condition in certain children and teens.

Medications

Hydroxyurea (Droxia, Hydrea, Siklos). Regular hydroxyurea use reduces the likelihood of unpleasant crises and may result in fewer hospital stays and blood transfusions. Yet it could also make infections more likely. If you are pregnant, avoid taking the medication.

Oral powder L-glutamine (Endari). This medication has just been given the approval to treat sickle cell anemia. It helps to lessen how often people have pain crises.

Crizanlizumab (Adakveo). This medication, administered intravenously, can assist in lowering the frequency of pain crises in both adults and children older than 16. Adverse consequences may include fever, backache, joint discomfort, and nausea.

Voxelotor (Oxbryta). This medication is used to treat adults and children over the age of 12 who have sickle cell disease. This medication, when taken orally, can increase blood flow throughout the body and reduce the risk of anemia. Headache, nausea, diarrhea, exhaustion, rash, and fever are some of the potential side effects.

Drugs that reduce pain. During sickle cell pain crises, your doctor may provide opioids to aid with pain management.

Infection prevention

Penicillin may be administered to children with sickle cell anemia between the ages of 2 months and at least 5 years old. By doing this, illnesses like pneumonia that may be fatal to children with sickle cell anemia are reduced.

Individuals with sickle cell anemia may require penicillin therapy for the duration of their life. Those who have had splenectomy or pneumonia treatment risk their lives.

To help prevent illness, all children should obtain their first series of vaccinations. They are essential for children with sickle cell anemia especially due to the possible severity of their illnesses.

Your children's doctor should make sure that your child obtains the full complement of recommended childhood immunisations, including those for hepatitis B, pneumonia, meningitis, and meningococcal disease, as well as an annual flu shot. Vaccinations are crucial for people with sickle cell anemia as well.

Those with sickle cell anemia should take particular measures during the COVID-19 pandemic, including isolating themselves at home as much as possible and, if appropriate, receiving vaccinations.

Techniques, both surgical and otherwise

Transfusions of blood. They are employed in the treatment and avoidance of problems like a stroke in sickle cell disease patients.

Red blood cells are taken from donor blood and supplied through a vein to a patient with sickle cell anemia during a red blood cell transfusion. This raises the quantity of healthy red blood cells, which helps lessen signs and side effects.

Hazards include infection, an immunological reaction to the donor blood, which may make it difficult to identify new donors and an excess of iron accumulating in your body. If you receive regular transfusions, you might require therapy to lower iron levels because too much iron can harm your heart, liver, and other organs.

Transplant of stem cells. This operation, often known as a bone marrow transplant, involves replacing sickle cell anemia-affected bone marrow with healthy bone marrow from a donor. Often, a sibling or other matched donor who is free of sickle cell anemia is used in the surgery.

A bone marrow transplant is only advised for persons, mainly youngsters, who have severe symptoms and consequences of sickle cell anaemia because of the dangers involved with the treatment, which include mortality. The only known treatment for sickle cell anemia is a stem cell transplant.

Gene treatments and adult stem cell transplantation are now the subjects of clinical investigations.

You may be able to prevent sickle cell anemia-related problems by practicing the following healthy habits:

• Daily folic acid supplementation and a balanced diet are recommended. Folic acid and other vitamins are necessary for the bone marrow to produce new red blood cells. See your doctor regarding folic acid and other vitamin supplements. 
• Consume healthy grains and a range of colorful fruits and veggies.
• Take in a lot of water. The chance of a sickle cell crisis might rise if you are dehydrated. Try to consume eight glasses of water every day, during the course of the day. If you exercise or spend time in a hot, dry environment, up your water intake.
• Avoid extremes of temperature. Your chance of having sickle cells might rise if you are exposed to intense heat or cold.
• Regularly exercise, but do not overdo it. How much exercise is suitable for you should be discussed with your doctor.
• Be cautious when taking over-the-counter drugs. Due to the potential impact on your kidneys, take painkillers like ibuprofen (Advil, Motrin IB, Children's Motrin, and others) or naproxen sodium (Aleve) sparingly, if at all. Before using any over-the-counter medications, see your doctor.
• Avoid smoking. Pain crises are more likely if you smoke.

Complications of Sickle Cell Disease

Many problems, such as the following, can result from sickle cell anemia:

Stroke. Blood flow to a specific part of the brain can be blocked by sickle cells. Seizures, numbness or paralysis in the arms and legs, abrupt speech problems, and loss of consciousness are all indications of a stroke. Take your child to the doctor right away if they exhibit any of these symptoms. Strokes are often deadly.

Chronic chest syndrome. This potentially fatal consequence, which manifests as chest discomfort, fever, and breathing difficulties, can be brought on by a lung infection or sickle cells clogging blood channels in the lungs. That could necessitate urgent medical care.

Hypertension in the lungs. High pulmonary blood pressure can occur in people with sickle cell anemia. Adults are generally affected by this condition. Fatigue and shortness of breath are typical signs of this potentially dangerous illness.

Organ injury. Sickle cells that restrict blood flow deplete organs of both oxygen and blood. In sickle cell anaemia, blood oxygen levels are also unusually low. The kidneys, liver, and spleen are just a few of the nerves and organs that might suffer from this lack of oxygen-rich blood, which can be fatal.

Segmentation of the spleen. The spleen can grow due to the presence of a lot of sickle cells, which can also result in stomach pain on the left side of the body. This may endanger your life. Sickle cell anemia patients' parents should practice routinely feeling their child's spleen for enlargement.

Blindness. Sickle cells have the potential to obstruct the eyes' small blood capillaries. This can eventually result in blindness.

Leg sores. Leg ulcers brought on by sickle cell anemia can be very painful.

Gallstones. Bilirubin is a byproduct of red blood cell decomposition. If the body's bilirubin levels are too high, gallstones may form.

Priapism. Men with sickle cell anemia may experience painful, protracted erections in this situation. Sickle cells can obstruct the penile blood arteries, which over time can cause impotence.

Thrombosis in a deep vein. Red cell sickling can lead to blood clots, which increases the chance that a clot would lodge in a deep vein or the lung (deep vein thrombosis). Either might result in a fatal disease.

Problems during pregnancy. Blood clots and high blood pressure are more likely to occur during pregnancy if you have sickle cell anemia. It can also up the chance of miscarriage, early birth, and having infants who are underweight at birth.

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