Sickle cell anaemia is an inherited form of anaemia — a condition in which there isn’t enough healthy red blood cells to carry adequate oxygen throughout your body. Normally, your red blood cells are flexible and round, moving easily through your blood vessels. In sickle cell anemia, the red blood cells become rigid and sticky and are shaped like crescent moons. These irregularly shaped cells can get stuck in small blood vessels, which can slow or block blood flow and oxygen to parts of the body.
There’s no current cure for most people with sickle cell anemia. But treatments can relieve pain and help prevent problems associated with the disease.
What are the Symptoms of Sick Cell Anemia?
Signs and symptoms of sickle cell anemia vary from person to person and change over time, include:
Anaemia: Sickle cells break apart easily and die, leaving you without enough red blood cells. Red blood cells usually live for about 120 days before they need to be replaced. But sickle cells usually die in 10 to 20 days, leaving a shortage of red blood cells (anemia). Without enough red blood cells, your body can’t get the oxygen it needs to feel energized, causing fatigue.
Pain: Pain develops when sickle red blood cells block blood flow through tiny blood vessels to your chest, abdomen and joints. Pain can also occur in your bones. The pain varies in intensity and can last for a few hours to a few weeks. Some people have only a few pain. Others have a dozen or more crises a year. If a crisis is severe enough, you might need to be hospitalized. Some adolescents and adults with sickle cell anemia also have chronic pain, which can result from bone and joint damage, ulcers and other causes.
Painful swelling of hands and feet: The swelling is caused by sickle red blood cells blocking blood flow to the hands and feet.
Frequent infections: Sickle cells can damage an organ that fights infection (spleen), leaving you more vulnerable to infections. life-threatening infections, such as pneumonia
Delayed growth: Red blood cells provide your body with the oxygen and nutrients you need for growth. A shortage of healthy red blood cells can slow growth in infants and children and delay puberty in teenagers.
Vision problems: Tiny blood vessels that supply your eyes may become plugged with sickle cells. This can damage the retina — the portion of the eye that processes visual images, leading to vision problems.
What Causes Sickle Cell
Sickle cell anemia is caused by a mutation in the gene that tells your body to make the red, iron-rich compound that gives blood its red color (hemoglobin). Hemoglobin allows red blood cells to carry oxygen from your lungs to all parts of your body. In sickle cell anemia, the abnormal hemoglobin causes red blood cells to become rigid, sticky and misshapen.
The sickle cell gene is passed from generation to generation in a pattern of inheritance called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for a child to be affected. If only one parent passes the sickle cell gene to the child, that child will have the sickle cell trait.
With one normal hemoglobin gene and one defective form of the gene, people with the sickle cell trait make both normal hemoglobin and sickle cell hemoglobin. Their blood might contain some sickle cells, but they generally don’t have symptoms. But they are carriers of the disease, which means they can pass the gene to their children.Sickle baby to be born with sickle cell anemia, both parents must carry a sickle cell gene.
Common Complications of Sickle Cell Anemia
Sickle cell anemia can lead to a host of complications, including;
Stroke: A stroke can occur if sickle cells block blood flow to an area of your brain. Signs of stroke include seizures, weakness or numbness of your arms and legs, sudden speech difficulties, and loss of consciousness.
Acute chest syndrome: This life-threatening complication causes chest pain, fever and difficulty breathing. Acute chest syndrome can be caused by a lung infection or by sickle cells blocking blood vessels in your lungs. It might require emergency medical treatment with antibiotics and other treatments.
Pulmonary hypertension: People with sickle cell anemia can develop high blood pressure in their lungs (pulmonary hypertension). This complication usually affects adults rather than children. Shortness of breath and fatigue are common symptoms of this condition, which can be fatal.
Organ damage: Sickle cells that block blood flow through blood vessels immediately deprive the affected organ of blood and oxygen. In sickle cell anemia, blood is also chronically low on oxygen. Chronic deprivation of oxygen-rich blood can damage nerves and organs in your body, including your kidneys, liver and spleen. Organ damage can be fatal.
Blindness: Sickle cells can block tiny blood vessels that supply your eyes. Over time, this can damage the portion of the eye that processes visual images (retina) and lead to blindness.
Leg ulcers: Sickle cell anemia can cause open sores, called ulcers, on your legs.
Gallstones: The breakdown of red blood cells produces a substance called bilirubin. A high level of bilirubin in your body can lead to gallstones.
Priapism: Men with sickle cell anemia can have painful, long-lasting erections, a condition called priapism. As occurs in other parts of the body, sickle cells can block the blood vessels in the penis. This can damage the penis and lead to impotence.
Treatment for sickle cell anemia is usually aimed at avoiding crises, relieving symptoms and preventing complications. Children older than 2 years and adults with sickle cell anemia should see a doctor at least once a year. Treatments might include medications to reduce pain and prevent complications, and blood transfusions, as well as a bone marrow transplant.
Bone marrow transplant
Bone marrow transplant, also known as stem cell transplant, offers the only potential cure for sickle cell anemia. It’s usually reserved for people younger than age 16 because the risks increase for people older than 16. Finding a donor is difficult, and the procedure has serious risks associated with it, including death.
A bone marrow transplant involves replacing bone marrow affected by sickle cell anemia with healthy bone marrow from a donor. The procedure usually uses a matched donor, such as a sibling, who doesn’t have sickle cell anemia. For many, donors aren’t available. But stem cells from umbilical cord blood might be an option.
Medications used to treat sickle cell anemia include:
- Antibiotics. Children with sickle cell anemia may begin taking the antibiotic penicillin when they’re about 2 months old and continue taking it until they’re at least 5 years old. Doing so helps prevent infections, such as pneumonia, which can be life-threatening to an infant or a case of sickle cell disease in children. As an adult, if you’ve had your spleen removed or had pneumonia, you might need to take penicillin throughout your life.
- Pain-relieving medications. To relieve pain during a sickle cell crisis.
- Hydroxyurea (Droxia, Hydrea). When taken daily, hydroxyurea reduces the frequency of painful crises and might reduce the need for blood transfusions and hospitalizations. Hydroxyurea seems to work by stimulating production of fetal hemoglobin — a type of hemoglobin found in newborns that helps prevent the formation of sickle cells. Hydroxyurea increases the risk of infections, and there is some concern that long-term use of this drug might cause problems later in life for people who take it for many years. More study is needed.
In a red blood cell transfusion, red blood cells are removed from a supply of donated blood, then given intravenously to a person with sickle cell anemia.
Blood transfusions increase the number of normal red blood cells in circulation, helping to relieve anemia. In children with sickle cell anemia at high risk of stroke, regular blood transfusions can decrease the risk. Transfusions can also be used to treat other complications of sickle cell anemia, or they can be given to prevent complications.
Blood transfusions carry some risk, including infection and excess iron buildup in your body. Because excess iron can damage your heart, liver and other organs, people who undergo regular transfusions might need treatment to reduce iron levels.
Lifestyle and home remedies
Taking the following steps to stay healthy may help you avoid complications of sickle cell anemia:
- Take folic acid supplements daily, and choose a healthy diet. Bone marrow needs folic acid and other vitamins to make new red blood cells. Your doctor might recommend a folic acid supplement. Choose a diet that focuses on a variety of colorful fruits and vegetables, as well as whole grains.
- Drink plenty of water. Dehydration can increase your risk of a sickle cell crisis. Drink water throughout your day, aiming for about eight glasses a day. Increase the amount of water you drink if you exercise or spend time in a hot, dry climate.
- A void temperature extremes. Exposure to extreme heat or cold can increase your risk of a sickle cell crisis.
- Exercise regularly, but don’t overdo it. Talk with your doctor about how much exercise is right for you.