Sickle cell anaemia | Symptoms Causes and Treatment

sickle cell anemia

Overview

Sickle cell anaemia can be described as a member of a set of conditions called sickle cell disease. Sickle cell anaemia can be described as an inherited disease of the red blood cells where there is a shortage of healthful red blood cells to transport oxygen throughout your body.

Normally, the flexible circular red blood cells travel effortlessly throughout blood vessels. When sickle cell anemia is present, these red blood cells have a shape in the shape of crescent moons or sickles. These sticky, rigid cells may get trapped in blood vessels that are small that can cause blood flow to be slowed or blocked and oxygen flow to various areas of the body.

There’s no cure available for many patients suffering from sickle-cell anemia. However, treatments can ease discomfort and prevent complications that can arise from the disease.

Symptoms

Sickle cell anemia is usually seen at around the age of 5 months. They can vary from person to individual and can change with time. The symptoms and signs can include:

  • Anemia. Sickle cells break quickly and end up dying, leaving insufficient red blood cells. Red blood cells typically live for around 120 days before they have replenished. However, sickle cells typically disappear in 10 to 20 days, resulting in an absence of blood red cells (anemia).
    In the absence of sufficient red blood cells, your body isn’t able to absorb enough oxygen, leading to fatigue.
  • Periods of pain. Infrequent episodes of pain known as pain crises are the most prominent symptom of sickle cell anemia. The pain is caused by sickle-shaped red blood cell clots blocking the flow of blood through blood vessels that are tiny and connect your abdomen, chest, and joints. The pain can also be felt in the bones.
    The intensity of pain can vary and lasts from up to some weeks. Some sufferers have just a few painful episodes each year. Others experience at least a dozen each year. In the event of a severe pain issue, it is necessary to undergo hospitalization.
    Certain adults and adolescents with sickle cell anemia also suffer from chronic pain. This may be caused by joint and bone injury or ulcers. There are also other causes.
  • Swelling of the feet and hands. This swelling can be caused by red blood cells that have a sickle shape hindering blood flow to the feet and hands.
  • Infections that are frequent. Sickle cells may damage the spleen, making you more susceptible to infections. Doctors often provide children and infants suffering from sickle cell anemia shots and antibiotics to avoid life-threatening infections like pneumonia.
  • Puberty is a delayed growth process. Red blood cells supply your body with oxygen and nutrients that are required to grow. Insufficient red blood cells can cause a slowdown in growth in infants and young children and can delay puberty for teenagers.
  • Eye problems. Tiny blood vessels that feed your eyes may become blocked in sickle cells. This could cause damage to the retina, the eye’s part that processes visual images, and cause vision issues.

When should you see a doctor?

Sickle cell anemia can be detected in the infant years through infant screening programs. If your child suffers from any of the following symptoms consult your physician right immediately or seek urgent medical attention:

  • Fever. Patients with sickle cell anemia face an increased risk of getting serious infections, and fever could be the first indication of infection.
  • Inexplicably painful episodes that include discomfort in the abdomen and chest, as well as bones or joints.
  • The feet or hands.
  • Abdominal swelling, in particular when the area is sensitive to contact.
  • Skin tone pale or nail beds.
  • A yellow tint on the skin or the whites of the eyes.
  • The signs or symptoms of stroke symptoms or signs. If you experience one-sided weakness or paralysis in the arms, face, or legs, confusion or difficulty walking or talking, sudden changes in vision or feeling of numbness, or severe headache, dial 911 or your emergency number immediately.

Causes

A mutation of the gene that instructs your body to produce the iron-rich substance that turns blood red. This allows the red blood cells to transport oxygen from the lungs throughout the organs (hemoglobin). When sickle cells are anemic hemoglobin that is abnormal causes the red blood cells in your body to stiffen and sticky, as well as irregularly shaped.

Mother and father both have to have the defective form of the gene in order for children to be affected.

If one parent only passes that sickle cell trait onto the child, the child will inherit the sickle cell defect. With one normal hemoglobin gene as well as one variant that is defective that is inherited from the gene individuals who have the sickle cell condition produce normal and sickle hemoglobin.

The blood of a person may contain sickle cells, however they’re not usually afflicted with symptoms. These people are also carriers however, meaning they could pass on the gene onto their children.

Risk factors

In order for a baby to develop sickle-cell anemia, both parents must have the sickle-cell gene. Within the United States, sickle cell anemia is most often a problem for the black population.

Complications

Sickle cell anemia may result in a myriad of complications, such as:

  • Stroke. Sickle cells may stop the flow of blood to the brain’s areas. A sign of stroke is seizures and weakness or numbness in your legs and arms as well as sudden difficulties with speech or loss of awareness. If your child is suffering from all of these symptoms or symptoms, get medical help immediately. A stroke could be fatal.
  • Acute chest syndrome. A lung illness or sickle cells that block lung blood vessels may result in this life-threatening complication which can cause symptoms of chest discomfort, fever, and difficulty breathing. This could require medical emergency treatment.
  • Pulmonary hypertension. People suffering from sickle cell anemia are prone to developing elevated blood pressures in their lungs. The condition usually affects adult patients. A lack of breath and fatigue are the most common signs of this condition. It could be fatal.
  • Organ damage. Sickle cells that stop organ blood flow are able to deprive organs affected by oxygen and blood. When sickle cells are present, blood levels are often deficient in oxygen. The low oxygen content of blood can harm organs and nerves like liver, kidneys, and spleen. It can also cause death.
  • Blindness. Sickle cells may block blood vessels tiny enough to are responsible for supplying your eyes. In time, this could affect your eyes and cause blindness.
  • Leg ulcers. Sickle cell anemia may cause open sores on your legs.
  • Gallstones. The decomposition of red blood cells creates an ingredient called Bilirubin. The presence of high levels of bilirubin within your body could lead to gallstones.
  • Priapism. With this disorder, males who suffer from sickle cell anemia may endure painful, long-lasting sexual erections. Sickle cells may block blood vessels of the penis and can cause impermanence in the future.
  • Pregnancy complications. Sickle cell anemia may increase the chance of having bleeding clots and high blood pressure throughout pregnancy. It may also increase the chance of miscarriage, preterm birth, and babies with low birth weight.

Prevention

If you are a carrier of sickle cell traits having an expert in genetic counseling prior to trying to conceive will aid in understanding the risk that you will have a baby who has sickle cell anemia. They can also provide information on different ways to prevent the disease and fertility options.

Diagnosis

A blood test will determine the defect of hemoglobin, which is the cause of sickle cell anemia. Within the United States, this blood test is routinely part of newborn screening. However, older children, as well as adults, are able to be tested too.

For adults, blood samples are taken from a vein located in the arm. In infants and children, it is generally taken from the finger or the heel. The blood sample is taken to a laboratory in which it is tested for hemoglobin that is not functioning properly.

Should you suspect that your kid suffers from sickle-cell anemia the doctor may suggest further tests to look for potential complications caused by the disease.

If your children or you is carrying sickle cell genes you’ll probably be referred to a Genetic counselor.

Assessing stroke risk

With the help of a special ultrasound machine, doctors can determine the children who have a higher risk of having a stroke. The test is painless and utilizes sound waves to determine blood flow, which is utilized by infants as young as years old. Regular blood transfusions may reduce the risk of stroke.

Tests to identify sickle cell gene mutations prior to the time of

Sickle cell disease is identified in a baby who is not yet born by examining the fluid around the baby’s mother’s womb (amniotic fluid). Should you suspect that you or your loved one suffers from sickle cell anemia or sickle cell disease, consult your physician about this test.

Treatment

Treatment of sickle-cell anemia is typically aimed at preventing pain attacks, alleviating symptoms, and prevention of complications. Treatments may include medication and blood transfusions. For certain teenagers and children, a stem cell transplant could be able to cure the condition.

Medications

  • Hydroxyurea (Droxia, Hydrea, Siklos). A daily dose of hydroxyurea can reduce the number of painful crises, and could decrease the need for hospitalizations and blood transfusions. It also increases the risk of getting infections. Do not take the medication when you’re expecting it.
  • L-glutamine powder for oral use (Endari). The FDA has recently approved this medication to treat sickle cell anemia. It can help reduce the incidence of painful crises.
  • Crizanlizumab (Adakveo). The FDA has recently approved this medication to treat sickle cell anemia. It is administered through a vein, it reduces the frequency of painful emergencies. The side effects include nausea and back pain, joint pain , and fever.
  • Pain-relieving medications. Your physician may prescribe narcotics to ease discomfort during a sickle cell pain crisis.
  • Voxelotor (Oxbryta). Voxelotor (Oxbryta). Food and Drug Administration (FDA) recently approved the oral medication to treat anemia in patients suffering from sickle cell disease. Some of the side effects are nausea, headache and diarrhea, fatigue, rash , and fever.

Infection prevention

Children suffering from sickle cell anemia could receive penicillin between the ages of 2 months old up to 5 years old. It helps to keep infections at bay, including pneumonia, which is life-threatening for children with sickle cell anemia.

Adults with sickle cells anemia might need to take penicillin for the rest of their lives, particularly if they’ve undergone surgery or pneumonia to remove the spleen.

Childhood vaccinations are crucial to prevent diseases in children of all ages. They are especially important for children who suffer from sickle cell anemia since their illnesses can be very severe.

Your child’s physician will make sure that your child is given all recommended vaccinations for children and vaccines for meningitis, pneumonia, and annual vaccination against the flu. Immunizations are essential for adults suffering from sickle cell anemia.

Other procedures and surgeries

  • Transfusions of blood. In the case of a red blood cell transfusion is when Red blood cells will be taken from a source of donated blood and then transferred through a vein patient suffering from sickle cell anemia. This boosts the number of red blood cells that are normal which can help reduce the symptoms and complications.
    The risk is an immune reaction to donor blood that can cause difficulty in finding potential donors; infections; and a buildup of iron within your body. Since excess iron could damage the liver, heart as well as other organs if have regular transfusions, then you might require treatment to lower your iron levels.
  • Stem cells transplant. Also called bone marrow transplants this process involves replacing the bone marrow that is affected due to sickle cell anemia with healthy bone marrow taken from donors. The procedure is usually performed using an appropriate donor, for example, the sibling of the donor, who does not suffer from sickle-cell anemia.
    Because of the potential risks with organ transplantation, it is advised only for those, mostly children, who exhibit significant signs and symptoms as well as complications of sickle cell anemia.
    The procedure will require a lengthy hospital stay. Following it, the patient will be given medications to prevent rejection of the stem cells. However, your body may reject the transplant, resulting in serious problems.

Lifestyle and home solutions to home

Following the steps below to remain healthy can assist you in avoiding the complications of sickle cell anemia.

  • Get folic acid supplements every day and follow a healthy diet. Bone marrow requires folic acids along with other vitamins to produce fresh red blood cells. Consult your physician for a supplement to folic acid along with other vitamins. Take a variety of bright fruits and veggies, and whole grains.
  • Get plenty of fluids. A deficiency in water intake can increase the risk of suffering from a sickle-cell crisis. Drink plenty of water throughout the day, and aim for around eight glasses per day. Make sure to increase the amount of water you consume when you work out or spend time in a hotand dry climate.
  • Avoid extreme temperatures. Extreme temperatures or cold could increase the risk of developing a sickle cell disease.
  • Do your exercise regularly, but do not overdo it. Consult your doctor about the amount of exercise that is appropriate for you.
  • Utilize the over-the-counter (OTC) medicines with care. Make use of OTC painkillers, for example, ibuprofen (Advil, Motrin IB, Children’s Motrin, others) or naproxen sodium (Aleve) but only sparingly when you can due to the potential effects on kidneys. Consult your physician before using OTC medicines.
  • Don’t smoke. Smoking can increase your chance of suffering from pain problems.

Support and Coping

If you or one of your relatives suffers from sickle-cell anemia you may require help. Consider:

  • Find a person to talk to. Ask your physician whether there are support families groups within your local area. Meeting with others experiencing the same issues yours can be helpful.
  • Finding ways to manage the discomfort. Consult your physician in order to figure out ways to reduce the pain. The use of pain medications won’t always get all pain. Different approaches can be effective for different individuals however it’s worthwhile to try heating pads or massages, hot baths and physical therapy.
  • Learn about sickle cell anemia can help you make informed decisions regarding treatment. If your children are suffering from sickle cell disease, it is important to know all you can about this disease. Ask questions during your child’s appointments. Consult your health care team for recommendations on reliable resources for information.

Making preparations for your appointment

Sickle cell anemia can be detected through genetic testing after the birth of a baby. These test results are likely to be provided to your family physician or pediatric doctor. The doctor will recommend you to a physician who is specialized with blood disorder (hematologist) or an pediatric doctor known as a hematologist.

Here’s some tips to help you prepare for your appointment.

What you can do

Create a list of:

  • You’ve noticed symptoms, which include ones that aren’t related to the reason you made the appointment and at what point they started
  • Important personal details, such as medical history of the family and whether or not someone has sickle cell anemia, or the genetic trait that causes it.
  • Questions you can ask your doctor

Bring someone from your family or a close acquaintance along, if you can for you to aid in recalling the details you’ve been given.

If you suffer from sickle cell anemia the most important questions to ask your doctor are:

  • What’s the likely cause for the symptoms of my kid?
  • Are there any other causes that could be a factor?
  • What tests are necessary?
  • What treatment options are available and which would you would you recommend?
  • What are the common side effects in these treatments?
  • Are alternatives to the initial method you’re suggesting?
  • What’s the prognosis for my child?
  • Are there any dietary or activity restriction?
  • Have you brochures or other printed materials I can get? Which websites would you recommend?

Do not hesitate to ask any other questions.

What should you expect from your doctor?

Your doctor may inquire about your health, which could include:

  • What time did you first notice the symptoms of your child?
  • Are they continuous or intermittent?
  • What does it take, if anything, to be able to alleviate symptoms?
  • What could be the cause, if anything, that appears to be causing them to get worse?

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