Sickle Cell Disease, Causes, Symptoms, Treatments, And Prevention!
Things You Need To Know About Sickle Cell Disease:
SCD is a group of inherited red blood cell disorders. Healthy red blood cells are round, and they move through small blood vessels to carry oxygen to all parts of the body. In someone who has SCD, the red blood cells become hard and sticky and look like a C-shaped farm tool called a “sickle”. The sickle cells die early, which causes a constant shortage of red blood cells. sickle cell
Also, when they travel through small blood vessels, they get stuck and clog the blood flow. This can cause pain and other serious problems such as infection, acute chest syndrome, and stroke.
People who have sickle cell disease have an abnormal protein in their red blood cells.
In the United States, most people who have sickle cell disease are of African ancestry, but the condition is also common in people with a Hispanic background. Because the disease runs in families, couples planning to have children can have genetic testing.
Early signs and symptoms of sickle cell disease include swelling of the hands and feet;
symptoms of anemia, including fatigue, or extreme tiredness; and jaundice. Over time, sickle cell disease can lead to complications such as infections, delayed growth, and episodes of pain called pain crises. Most children who have sickle cell disease are pain-free between crises, but adolescents and adults may also suffer from chronic, ongoing pain. Over a lifetime, sickle cell disease can harm a patient’s spleen, brain, eyes, lungs, liver, heart, kidneys, penis, joints, bones, or skin.
Sickle Cells Disease Cure,
A blood and bone marrow transplant is currently the only cure for sickle cell disease, and only a small number of people who have sickle disease are able to have the transplant. There are effective treatments that can reduce symptoms and prolong life. Early diagnosis and regular medical care to prevent complications also contribute to improved well-being. Sickle cell disease is a lifelong illness. The severity of the disease varies widely from person to person.
Types of Sickle cell disease:
People who have sickle cell disease have abnormal hemoglobin, called hemoglobin S or sickle hemoglobin, in their . Hemoglobin is a protein in red blood cells that carries throughout the body. People who have sickle cell disease inherit two abnormal hemoglobin , one from each parent.
The types of sickle cell disease include the following:
Hemoglobin:
- Sβ0 thalassemia.
- Sβ+ thalassemia.
- SC.
- SD.
- SE.
- SS.
In all types of sickle cell disease, at least one of the two abnormal genes causes a person’s body to make hemoglobin S. When a person has two hemoglobin S genes (hemoglobin SS), the disease is called sickle cell anemia. This is the most common and often most severe type of sickle cell disease. Hemoglobin SC disease and hemoglobin Sβ thalassemia are two other common types of sickle cell disease. Hemoglobin SD and hemoglobin SE are much less common.
Causes of Sickle Cell Disease:
SCD is inherited in the same way that people get the color of their eyes, skin, and hair.
- A person with SCD is born with it.
- People cannot catch SCD from being around a person who has it.
- Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease.
Hemoglobin S gene:
A. Sickle cell disease is an disease caused by defects, called , in the beta-globin gene that helps make hemoglobin.
Normally, hemoglobin in red blood cells takes up oxygen in the lungs and carries it through the arteries to all the cells in the tissues of the body. Red blood cells that contain normal hemoglobin are disc-shaped and flexible so that they can move easily through large and small blood vessels to deliver oxygen.
B. Sickle hemoglobin is not like normal hemoglobin.
The mutations in the gene cause a problem when oxygen levels in the blood are lower, which occurs once the hemoglobin has delivered oxygen to the cells in the body’s tissues. With less oxygen, the abnormal hemoglobin S gene can cause rigid, nonliquid protein strands to form within the red blood cell. These rigid strands can change the shape of the cell, causing the sickled red blood cell that gives the disease its name.
C. Sickle-shaped cells are not flexible and can stick to vessel walls,
causing a blockage that slows or stops the flow of blood. When this happens, oxygen is unable to reach nearby tissues. The lack of oxygen in tissue can cause attacks of sudden severe pain, called pain crises. These pain attacks can occur without warning and a person who has them often needs to go to the hospital for effective treatment.
D. Because sickle cells cannot change shape easily they tend to burst apart.
Normal red blood cells live about 90 to 120 days, but sickle cells last only 10 to 20 days. The body is always making new red blood cells to replace the old cells. However, in sickle cell disease, the body may have trouble keeping up with how fast the cells are being destroyed. Because of this, the number of red blood cells is usually lower than normal. This condition, called anemia, can cause a person to have less energy.
How is the hemoglobin S gene inherited?
When the hemoglobin S gene is inherited from only one parent, and a normal hemoglobin gene—hemoglobin A—is inherited from the other, that person will have sickle cell trait. People who have sickle cell trait are generally healthy.
Only rarely do people who have sickle cell trait have complications similar to those seen in people who have sickle cell disease. But people who have sickle cell trait are carriers of a defective hemoglobin S gene, so they can pass it on when they have a child.
If the child’s other parent also has a sickle cell trait or another abnormal hemoglobin gene, such as beta-thalassemia, hemoglobin C, hemoglobin D, or hemoglobin E, that child has a chance of having sickle cell disease.
In the image above, each parent has one normal hemoglobin A gene and one hemoglobin S gene, which means each of their children has:
- A 25 percent chance of inheriting two normal hemoglobin A genes. In this case, the child does not have a sickle cell trait or disease.
- A 50 percent chance of inheriting one normal hemoglobin A gene and one hemoglobin S gene. This child has sickle cell trait.
- A 25 percent chance of inheriting two hemoglobin S genes. This child has sickle cell disease.
It is important to keep in mind that each time this couple has a child, the chances of that child having sickle cell disease remain the same. In other words, if the firstborn child has sickle cell disease, there is still a 25 percent chance that the second child will also have the disease. Both boys and girls can inherit sickle cell trait, sickle cell disease, or normal hemoglobin.
Risk Factors -Sickle Cell disease:
Signs, Symptoms, and Complications of sickle cell disease:
Sickle cell disease is a lifelong illness. The severity of the disease varies widely from person to person. People with sickle cell disease can experience both and , , and complications. If a person has sickle cell disease, it is present at birth. But most newborns do not have any problems from the disease until they are about 5 or 6 months of age.
I. Early Signs And Symptoms:
Some children who have sickle cell disease will start to have problems early on, and some later. Early symptoms of sickle cell disease may include:
- A yellowish color of the skin, known as jaundice, or whites of the eyes, known as icterus, occurs when a large number of red cells undergo
- or fussiness from anemia.
- Painful swelling of the hands and feet, known as
- Bed-wetting (associated with impaired kidney function).
- Shortness of breath (particularly when active).
The signs and symptoms of sickle cell disease will vary from person to person and can change over time. Most of the signs and symptoms of sickle cell disease are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.
II. Complications:
- Acute chest syndrome.
- Acute pain crisis,
- Brain complications, such as a clinical or silent stroke.
- Chronic pain.
- Delayed growth and puberty.
- Eye problems.
- Gallstones.
- Heart problems,
- Infections.
- Joint complications.
- Kidney problems.
- Leg ulcers.
- Liver complications.
- Pregnancy complications.
- Priapism.
Severe anemia complications:
People who have sickle cell disease also usually have mild to moderate anemia. At times, however, they can have severe anemia. Severe anemia can be life-threatening. Severe anemia in a newborn or child who has sickle cell disease may be a result of:
- Splenic sequestration crisis.
Diagnosis:
SCD is diagnosed with a simple blood test. It most often is found at birth during routine newborn screening tests at the hospital. In addition, SCD can be diagnosed before birth.
Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.
Your doctor may use a number of tests to diagnose sickle cell disease if various screening tests show that you might have the condition.
-
- Screening tests.
- Newborn screening.
- Prenatal screening.
- A blood test can show if you have SCD or sickle cell trait. All states now test newborns as part of their screening programs, so treatment can begin early.
- People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.
Doctors can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).
Treatment Of Sickle Cell Disease:
The goals of treating SCD are to relieve pain and to prevent infections, eye damage, and strokes.
- • There is no single best treatment for all people with SCD.
- Treatment options are different for each person depending on the symptoms.
- Treatments can include receiving blood transfusions, maintaining a high fluid intake (drinking 8 to 10 glasses of water each day), receiving IV (intravenous) therapy (fluids given into a vein), and medications to help with the pain.
- For severe SCD, a medicine call hydroxyurea might be recommended.
- Research suggests that hydroxyurea can reduce the number of painful episodes and the recurrence of ACS.
- It also can reduce hospital stays and the need for blood transfusions among adults who have SCD.
Is There A Cure For Sickle Cell Disease?
The only cure for SCD is bone marrow or stem cell transplantation. Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister.
To date, the only cure for SCD is a bone marrow or stem cell transplant.
- A bone marrow or stem cell transplant is a procedure that takes healthy stem cells from a donor and puts them into someone whose bone marrow is not working properly. These healthy stem cells cause the bone marrow to make new healthy cells.
- Bone marrow or stem cell transplants are very risky and can have serious side effects, including death. For the transplant to work, the bone marrow must be a close match.
There are treatments that can help relieve symptoms, lessen complications, and prolong life:
- Antibiotics to try to prevent infections in younger children
- Pain relievers for acute or chronic pain
- Hydroxyurea, a medicine that has been shown to reduce or prevent several SCD complications. It increases the amount of fetal hemoglobin in the blood. This medicine is not right for everyone; talk to your health care provider about whether you should take it. This medicine is not safe during pregnancy.
- Childhood vaccinations to prevent infections
- Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications.
There are other treatments for specific complications. To stay as healthy as possible, make sure that you get regular medical care, live a healthy lifestyle, and avoid situations that may set off a pain crisis.
Medicine:
1. Voxelotor:
The U.S. Food and Drug Administration (FDA) approved a new medicine in 2019 to treat sickle cell disease in adults and children 12 years and older. The oral medicine prevents red blood cells from forming the sickle shape and binding together. This may decrease the destruction of some red blood cells, which in turn lowers the risk for anemia and improves blood flow to your organs.
Possible side effects include headache, diarrhea, abdominal pain, nausea, fatigue, and fever. Rarely, allergic reactions may occur, causing rashes, hives, or mild shortness of breath. Talk to your doctor about other medicines you take.
2. Crizanlizumab-tmca:
In 2019, the FDA also approved a new medicine to reduce the number of pain crises experienced by adults and children 16 years and older who have sickle cell disease. The medicine, which is given through an IV in the vein, helps prevent blood cells from sticking to blood vessel walls and causing blood flow blockage, inflammation, and pain crises.
Possible side effects include nausea, joint pain, back pain, and fever.
3. Penicillin:
In children who have sickle cell disease, taking penicillin two times a day has been shown to reduce the chance of having a severe infection caused by the pneumococcus bacteria. Newborns need to take liquid penicillin. Older children can take tablets.
Many doctors will stop prescribing penicillin after a child has reached the age of 5. Some prefer to continue this antibiotic throughout life, particularly if a person has hemoglobin SS or hemoglobin Sβ0 thalassemia since people who have sickle cell disease are still at risk. All people who have had surgical removal of the spleen called a splenectomy or a past infection with pneumococcus should keep taking penicillin throughout life.
4. Hydroxyurea:
Hydroxyurea is an oral medicine that has been shown to reduce or prevent several sickle cell disease complications. This medicine was studied in patients who have sickle cell disease because it was known to increase the amount of fetal hemoglobin (hemoglobin F) in the blood. Increased hemoglobin F provides some protection against the effects of hemoglobin S.
- Use in adults:
- Many studies of adults with hemoglobin SS or hemoglobin Sβ thalassemia showed that hydroxyurea reduced the number of episodes of pain crises and acute chest syndrome.
- It also improved anemia and decreased the need for transfusions and hospital admissions.
- Use in children:
- Studies in children with severe hemoglobin SS or Sβ thalassemia showed that hydroxyurea reduced the number of vaso-occlusive crises and hospitalizations.
- A study of children between the ages of 9 and 18 months with hemoglobin SS or Sβ thalassemia also showed that hydroxyurea reduced the number of pain episodes and dactylitis.
- There is no information about how safe or effective hydroxyurea is in children under 9 months of age.
- Pregnant women should not use hydroxyurea.
Prevent and treat complications over your lifetime:
To prevent and treat complications over your lifetime, your doctor may recommend the following.
- Avoid overexertion and dehydration. Take time out to rest and drink plenty of fluids.
- Avoid situations that may set off a crisis.
- Extreme heat or cold, as well as abrupt changes in temperature, are often triggered.
- When going swimming, ease into the water rather than jumping right in.
- Do not travel in an aircraft cabin that is unpressurized.
- If you experience priapism, you may be able to relieve your symptoms by doing light exercise, emptying your bladder by urinating, drinking more fluids, and taking medicine recommended by your doctor.
- If your child attends daycare, preschool, or school, speak to his or her teacher about the disease. Teachers need to know what to watch for and how to accommodate your child.
- Learn how to palpate, or feel your child’s spleen.
- Because of the risk of splenic sequestration crisis, caretakers should learn how to palpate a child’s spleen.
- They should try to feel for the spleen daily and more often when the child is ill.
- If the spleen feels larger than usual, they should call the care provider.
- Take your medicines as your doctor prescribes.
- Get any medical and lab tests or immunizations that your doctor orders.
Living with Sickle Cell Disease, How to Manage Pain?
Learn ways to manage pain:
Every patient experiences pain differently. Work with your doctor to develop a pain management plan that works for you. This often includes over-the-counter medicines, as well as stronger medicines that you get with a prescription.
Your doctor may recommend these steps to manage acute pain.
- Talk to your doctor about taking hydroxyurea. When taken daily, hydroxyurea has been found to decrease the number and severity of pain episodes.
- When an acute crisis is just starting,
- Drink lots of fluids, and take nonsteroidal anti-inflammatory (NSAID) pain medicine, such as ibuprofen.
- If you have kidney problems, acetaminophen is often preferred. If pain persists, you may need stronger medicine.
- Try alternative ways to manage pain, such as massage, relaxation methods, acupuncture, or a heating pad.
- If you cannot control the pain at home, go to a sickle cell disease day hospital/outpatient unit or an emergency room to receive additional, stronger medicines and intravenous (IV) fluids.
- You may be able to return home once your pain is under better control.
- In this case, the doctor may prescribe additional pain medicines for a short course of therapy.
- You may need to be admitted to the hospital to fully control an acute pain crisis.
Your doctor may recommend these steps to manage chronic pain.
- Take pain medicines, such as ibuprofen, daily to help to reduce the pain.
- Try massage, heat, or acupuncture.
- Seek help if you have feelings of depression or anxiety. Supportive counseling and, sometimes, antidepressant medicines may help.
Some patients taking L-glutamine oral powder (Endari) may have fewer hospital visits or hospitalizations due to severe pain than patients who are not taking this medicine. They may also have shorter stays when they are hospitalized. More research is needed to understand how effective L-glutamine oral powder is as a treatment and which patients may benefit from using it.
Adopt a healthy lifestyle:
Monitor your condition:
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Disclaimer: “Nothing in this article makes any claim to offer cures or treatment for any disease or illness. If you are sick please consult with your doctor.”
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