Sickle cell anemia

Sickle cell disease is a blood ailment that is passed down through the generations. Hemoglobin with flaws is a symptom. This is the protein in red blood cells that transports oxygen to the body’s tissues. As a result, sickle cell disease prevents oxygen from reaching the tissues.

Normal hemoglobin-containing red blood cells are smooth, disk-shaped, and flexible, like doughnuts without holes. They can easily pass through blood vessels. Sickle cell hemoglobin causes cells to be stiff and sticky. When they run out of oxygen, they form a sickle or crescent shape, similar to the letter C. These cells clump together and make it difficult for them to pass through blood arteries. This can obstruct the flow of healthy, oxygen-carrying blood through small blood arteries. The blockage may cause discomfort.

Red blood cells have a lifespan of up to 120 days. Sickle cells, on the other hand, only live for 10 to 20 days. Because of their form and hardness, sickle cells may be eliminated by the spleen. The spleen aids in the filtering of pathogens from the circulation. This filter traps sickled cells, causing them to perish. Chronic anaemia occurs when the body’s healthy red blood cells are in short supply. The spleen is likewise harmed by sickled cells. As a result, you’re more susceptible to illnesses.

Causes of sickle cell anemia

A mutation in the gene that signals your body to generate the iron-rich compound that makes blood red and allows red blood cells to transmit oxygen from your lungs throughout your body causes sickle cell anaemia (hemoglobin). The defective haemoglobin in sickle cell anaemia causes red blood cells to become hard, sticky, and malformed.

For a kid to be impacted, the faulty form of the gene must be passed down from both parents.

If only one parent carries the sickle cell gene to their child, the youngster will inherit the characteristic. People with the sickle cell trait produce both normal and sickle cell haemoglobin because they have one normal and one faulty haemoglobin gene.

They may have sickle cells in their blood, but they are usually asymptomatic. They are, nonetheless, disease carriers, meaning they can pass the gene on to their children.

Symptoms of sickle cell anemia

A list of symptoms and problems related with sickle cell disease is provided below. Symptoms, on the other hand, can vary from person to person. The following are some of the possible symptoms and complications:

• Anemia. Because sickled cells are short-lived or destroyed, there are less red blood cells available in the body. This results in anemia. Severe anemia can make you feel dizzy, short of breath, and tired.
• Pain crisis, or sickle crisis. This occurs when the flow of blood is blocked to an area because the sickled cells have become stuck in the blood vessel. The pain can occur anywhere, but most often occurs in the chest, arms, and legs. Infants and young children may have painful swelling of the fingers and toes. Interruption in blood flow may also cause tissue death.
• Acute chest syndrome. This occurs when sickling occurs in the chest. This can be life-threatening. It often occurs suddenly, when the body is under stress from infection, fever, or dehydration. The sickled cells stick together and block the flow of oxygen in the tiny vessels in the lungs. It resembles pneumonia and can include fever, pain, and a violent cough.
• Splenic sequestration (pooling). Crises are a result of sickle cells pooling in the spleen. This can cause a sudden drop in hemoglobin and can be life-threatening if not treated promptly. The spleen can also become enlarged and painful from the increase in blood volume. After repeated episodes,  the spleen becomes scarred, and permanently damaged. Most children, by age 8, do not have a working spleen either from surgical removal, or from repeated episodes of splenic sequestration. The risk of infection is a major concern of children without a working spleen. Infection is the major cause of death in children younger than age 5 in this population.
• Stroke. This is another sudden and severe complication of people with sickle cell disease. The misshapen cells can block the major blood vessels that supply the brain with oxygen. Any interruption in the flow of blood and oxygen to the brain can result in severe brain damage. If you have one stroke from sickle cell anemia, you are more likely to have a second and third stroke.
• Jaundice, or yellowing of the skin, eyes, and mouth. Jaundice is a common sign and symptom of sickle disease. Sickle cells do not live as long as normal red blood cells and, therefore, they are dying faster than the liver can filter them out. Bilirubin (which causes the yellow color) from these broken down cells builds up in the system causing jaundice.
• Priapism.  This is a painful obstruction of the blood vessels in the penis by sickle cells. If not promptly treated, it can result in impotence.

The symptoms of sickle cell disease may look like other blood disorders or medical problems. Always consult your health care provider for a diagnosis.

Diagnosis of sickle cell anemia

You may be subjected to blood and other testing in addition to a thorough medical history and physical examination.

Many states screen babies for sickle cell disease on a regular basis so that treatment can begin as soon as possible. Complications can be reduced if diagnosed and treated early.

Hemoglobin electrophoresis is a blood test that can establish if a person has sickle cell disease or if they are a carrier of the sickle cell gene.

Sickle cell anaemia is caused by a faulty form of haemoglobin, which can be detected with a blood test. This blood test is part of regular newborn screening in the United States. However, older children and adults can also be evaluated.

A blood sample is taken from an arm vein in adults. The blood sample is frequently taken from a finger or heel in young children and babies. After that, the sample is transported to a laboratory to be checked for faulty haemoglobin. If you or your kid has sickle cell anaemia, your doctor may recommend additional testing to rule out any potential concerns. You or your child will almost certainly be directed to a genetic counsellor if you or your child has the sickle cell gene.

Treatment of sickle cell anemia 

When deciding on the appropriate treatment for you, your doctor will take into account your age, overall health, and other considerations.

In the management of sickle cell disease, early detection and avoidance of complications are crucial. The goal of treatment is to avoid organ damage, such as strokes, as well as to prevent infection and alleviate symptoms. The following treatments may be used:

• Pain medications. This is for sickle cell crises.
• Drinking plenty of water daily (8 to 10 glasses). This is to prevent and treat pain crises. In some situations, intravenous fluids may be required.  
• Blood transfusions. These may help treat anemia and prevent stroke. They are also used to dilute the sickled hemoglobin with normal hemoglobin to treat chronic pain, acute chest syndrome, splenic sequestration, and other emergencies.
• Vaccinations and antibiotics. These are used to prevent infections.
• Folic acid. Folic acid will help prevent severe anemia.
• Hydroxyurea. This medication helps reduce the frequency of pain crises and acute chest syndrome. It may also help decrease the need for blood transfusions. The long-term effects of the medication are unknown.
• Regular eye exams. These are done to screen for retinopathy.  
• Bone marrow transplant. Bone marrow transplants can cure some people with sickle cell disease. The decision to have this procedure is based on the severity of the disease and ability to find a suitable bone marrow donor. These decisions need to be discussed with your doctor and are only done at specialized medical centers.

Stem cell transplant (also called bone marrow transplant) is the only known cure for sickle cell disease. Transplants are complex and risky, and for now are an option only for some patients.

Scientists are studying gene therapy for sickle cell anemia. One day, it’s hoped that doctors can stop the disease by changing or replacing the abnormal gene that causes it.

But even without a cure, kids with sickle cell disease can lead fairly normal lives if they follow their treatment plan.

The treatment plan might involve:

• Immunizations and daily doses of penicillin to help prevent infection. Kids with sickle cell disease should get all recommended vaccinations, including the pneumococcal, flu, and meningococcal vaccines.
• Folic acid supplements, which can help kids make new red blood cells.
• Hydroxyurea, a medicine that makes the cells less sticky. This helps decrease the frequency and intensity of painful episodes and other complications. Hydroxyurea is taken every day.
• L-glutamine, another medicine. It’s used if hydroxyurea isn’t working well or someone still has pain crises even with hydroxyurea.
• Medicines to help manage pain when it does happen.
• Sometimes, blood transfusions for severe anemia or some complications