Sickle Cell Anemia
What is sickle cell anemia?
Sickle cell anemia is an inherited blood disorder that affects red blood cells. People with sickle cell anemia have red blood cells that contain mostly hemoglobin S, an abnormal type of hemoglobin.
Hemoglobin is an iron-rich protein that gives blood its red color and carries oxygen from the lungs to the rest of the body. Normal red blood cells are disc-shaped and very flexible. In sickle cell anemia, some red blood cells can change shape so that they look like sickles or crescent moons.
Sickle cell anemia varies from person to person. Some people who have the disease have chronic pain or fatigue. Others will have episodes of severe pain in various parts of the body due to acute blockage of blood supply to those areas. This may include the brain, kidneys, spleen and bone. The result is death in parts of those organs with all the expected clinical sequelae. However, with proper care and treatment, many people who have the disease can have improved quality of life and reasonable health much of the time.
In the Kingdom of Saudi Arabia, sickle cell anemia is very common in the Eastern and Southern Provinces. Carriers of the disease can reach around 20 % of the population in some areas.
Normal (A) and sickled (B) RBCs in a blood vessel. Normal cells flow freely, while sickle cells clump and block blood flow. The insets show cross-sections of normal and sickled RBCs. Source: National heart lung and blood institute NIH
How is sickle-cell anemia inherited?
A person inherits two copies of the hemoglobin gene—one from each parent. A normal gene will make normal hemoglobin (A). An abnormal (sickle cell) gene will make abnormal hemoglobin (S). Carriers of sickle cell are not affected themselves, as they have a normal gene as well as an abnormal gene. Sickle cell anemia affects people who inherit two copies of the abnormal gene from their carrier parents. Carrier parents have a one-in-four chance of having an affected child and a one-in-two chance of having a child who is an unaffected carrier.
Inheritance of sickle-cell anemia.(Source: science museum, London)
Who is a sickle cell carrier?
If you inherit only one copy of the sickle cell gene (from one parent), you will not have sickle cell anemia. Instead, you will have sickle cell trait; in other words you will be carrier of the disease. People who have sickle cell trait usually have no symptoms and lead normal lives. However, they can pass the sickle cell gene to their children.
How will I know if I am a carrier?
A simple blood test followed by a laboratory technique called Hemoglobin Electrophoresis will determine the type of hemoglobin you have. When you pass an electric charge through a solution of hemoglobin, distinct hemoglobins move different distances, depending on their composition and electric charge. This technique differentiates between normal hemoglobin (A), and Sickle hemoglobin (S).
What is a sickle cell crisis?
A sickle cell crisis happens when sickled red blood cells block small blood vessels that carry blood to your bones or other organs. This causes pain that can begin suddenly and last several hours to several days. Patient might have pain in his back, knees, legs, arms, chest or stomach. The frequency and severity of the pain varies from person to person and from crisis to crisis.
What causes a sickle cell crisis?
Most of the time, it is hard to know what caused your sickle cell crisis. A crisis might have more than one cause. However, you can do several things to help keep a crisis from occurring.
What can I do to stay healthy?
Patients with sickle cell anemia can live full lives and enjoy many of the activities that other people do. There are things that patients with sickle cell anemia can do to stay as healthy as possible. Below are few tips:
Learn healthy habits. Patients with sickle cell anemia should drink plenty of fluids every day and eat healthy food. They also should try not to get too hot, too cold, or too tired.
Take Vitamin supplements. Patients should take daily folic acid and vitamin B12 and B6 supplements. Vitamin B6 may have specific anti-sickling properties. Foods containing one or all of these vitamins include meats, oily fish, poultry, whole grains, dried fortified cereals, avocados, baked potatoes with skins, watermelon, bananas, and peanuts.
Get regular health checkups. Regular health checkups can help prevent some serious problems.
Be careful with over-the-counter medications. Some cold medications, such as nasal decongestant, can constrict your blood vessels and make it even harder for the sickle cells to move freely.
Protect yourself from infections. Common illnesses, like seasonal flu, can be more serious for a person with sickle cell anemia. You should protect yourself by taking simple steps (like good hand washing, avoiding crowded areas) to help prevent infections.
What can I do to control the pain at home?
Pain crisis can be dealt with at home with painkillers.
In addition to medications, several approaches can be used to reduce the pain.
A heating pad, warm bath, massage or rest might help. Simple activities to distract you from your pain (such as watching a comedy show, or talking on the phone with your friend or relative) might also help. Physiotherapy to strengthen your muscles and joints might also be helpful.
It is important for you to have a positive attitude and create a supportive environment. Strong family relationships and close friends can be especially helpful.
However, if the pain is severe, or if you can't drink sufficient fluids, you might need to be treated in the Emergency Department.
How is sickle cell anemia treated medically?
Health maintenance for patients with sickle cell anemia starts with early diagnosis, and includes penicillin prophylaxis, vaccination against pneumococcus bacteria and folic acid supplementation.
Treatment of complications may include pain management, antibiotics, intravenous fluids, blood transfusion and surgery.
Blood transfusions might be needed to prevent recurrent pain crises, risk of stroke and other complications. However, patients who receive repeated blood transfusions can accumulate iron until it reaches toxic levels. This is why it is important to use treatment to remove excess iron from the body.
Hydroxyurea is a drug that can help reduce the frequency of painful sickle cell crises and episodes of acute chest syndrome. Now it is acceptable to use it in both children and adult.
My child has sickle cell anemia, how can I help him?
You should take your child to the family doctor for regular health checkups. If your child has pain, fever, weakness or breathing difficulty, he may need intravenous fluids and antibiotics. Your child may also need oxygen, blood transfusions and strong painkillers during such attacks. Special treatments will be needed if your child has organ damage.
Also, it is worth knowing that children with sickle cell anemia might get more infections because their spleen is damaged by sickle cells.
You should take your child to the doctor right away if your child has any of these signs:
Headache
Fever or signs of infection
Joint, stomach, chest or muscle pain, or limping
Swollen hands or feet
Sudden paleness of the skin
Yellow color of the skin or eyes
Swelling in the abdomen
Persistent erection of the penis
Breathing difficulty
Trouble hearing or seeing
Weakness on one side of the body or a sudden change in speech
Can sickle cell anemia be cured?
Bone marrow or stem cell transplantation can cure sickle cell anemia. Bone marrow is a soft, fatty tissue inside the center of the bones where blood cells are made. Bone marrow transplantation is a procedure that takes healthy stem cells from one person (the donor) and puts them into the patient (the recipient). Bone marrow transplantation is very risky, and can have serious complications. For the procedure to be successful, the tissue type of both donor and recipient must be matched. Usually, the best donor is a brother or sister. Bone marrow transplantation is used only in case of severe sickle cell anemia for children at a stage when they have minimal organ damage from the disease.
Can a woman with sickle cell anemia have a healthy pregnancy?
Women with sickle cell anemia can have a healthy pregnancy, but need to be extra careful to avoid problems during pregnancy that can affect their own health and the health of the unborn baby. The disease may become more severe and crisis may occur more frequently. There is a higher risk of premature and low-birth weight baby. However, with early antenatal care and careful monitoring, women with sickle cell anemia can have a healthy pregnancy.
Useful links:
