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Sickle cell anemia is a form of inherited blood disorder, sickle cell disease. Sickle cell disease makes red blood cells become a crescent shape. It results from an abnormality in the hemoglobin gene mutation, affecting oxygen, nutrients, and hormone distribution capacity.
Normal red blood cells are round, smooth, and flexible enough to move through a small blood vessel to carry oxygen to the body. Patients with sickle cell disease have red blood cells that are crescent-shaped, stiff, inflexible red blood cells that can get stuck and block blood flow. In addition, crescent-shaped red blood cells have a shorter life expectancy.
There is no cure for most people with sickle cell disease. Treatment of sickle cell disease mainly focuses on preventing and treating the complications.
Symptoms
Sickle cell anemia may have varying symptoms from person to person, and it usually appears between the ages of 5 and 6 months. Most people with sickle cell anemia are more likely to develop new medical issues as they age. Although symptoms may evolve over time, it commonly includes the following:
- Anemia: Sickle cell anemia can be mild, moderate, or severe. Red blood cells typically last for around 120 days before needing to be replaced. In sickle cell anemia, cells self-destruct after 10 to 20 days. If the body cannot produce adequate red blood cells to replenish those that die sooner, it leaves the body low on red blood cells. It may result in exhaustion as the body does not have sufficient oxygen supply. Anemia can cause paler skin and breathing difficulties.
- Episodes of pain: Vaso-inclusive crisis (VOC), also known as an acute pain crisis, is one of the most challenging aspects of sickle cell anemia. The degree of the pain varies and might persist from a few hours to several days. Some may experience it a few times, several dozen or more every year.
The pain occurs when crescent-shaped red blood cells obstruct blood circulation to the chest, abdomen, and joints through tiny blood arteries. Chronic pain can arise from bone and joint degeneration, ulceration, and other causes in some teenagers and adults with sickle cell anemia.
Some patients may require hospitalization if a severe pain crisis occurs. With VOC, the person may experience sudden intense pain with sharp or stabbing feeling in the abdomen, lower back, arms, and legs.
- Swollen hands and feet: Because of an obstruction in blood flow to the extremities, patients with sickle cell disease may develop inflammation in their hands and feet.
- Infections: Vaccinations and antibiotics are regularly given to infants and children with sickle cell anemia to prevent possibly deadly illnesses like pneumonia. Sickle cells can harm the spleen, making it more vulnerable to infections.
- Delay in growth or puberty: Children may not grow as quickly as other children their age or enter puberty later than others due to a lack of healthy red blood cells. Red blood cells are responsible for transporting oxygen and nutrients throughout the body.
- Visual problems: Sickled cells may obstruct the retina’s blood arteries, which can cause retinal detachment. The retina, the part of the eye that interprets visual images, may experience some vision issues, such as seeing bright flashes, obscuration in the eyesight, and a lot of floaters, which are specks, threads, dark spots, and wavy lines that move across the vision.
It is advised to consult a healthcare provider if a child or adult experiences any of the symptoms. Urgent medical assistance may be required in cases of suspected stroke, and the symptoms are such as:
- Unknown cause of numbness
- Intense headache
- Paralysis or weakness on one side of the face, arms, or legs
- Confusion
- Trouble walking or talking
- Sudden change in vision
Children with sickle cell anemia should be closely monitored because they are susceptible to infections. Seek medical assistance immediately if a fever exceeds 101.5 F (38.5 C). Infections commonly begin with a fever and can be fatal if not managed immediately.
Causes
Sickle cell anemia is inherited from one’s biological parents. In this disorder, the gene that helps generate normal red blood cells mutates or alters. The red blood cells use hemoglobin to transport oxygen from the lungs to the rest of the body. The hemoglobin linked with sickle cell anemia causes red blood cells to become hard, sticky, and malformed.
Sickle cell anemia is caused by inheriting the defective hemoglobin protein gene from both biological parents. The parents must possess one copy of the sickle cell gene and convey both copies of the mutated form to the child. People with the sickle cell trait acquire the genetic mutation from one biological parent. They can produce both typical hemoglobin and sickle cell hemoglobin using one regular hemoglobin gene and one modified variant of the gene.
People with sickle cell trait can transfer the gene onto their children. Their blood may include sickle cells, although they are normal and asymptomatic.
Risk factors
According to studies, 1 to 3 million persons in the United States have sickle cell trait, including 8% to 10% of African Americans. People of African, Mediterranean, and Middle Eastern heritage are the most affected by this disease in the U.S.
Both parents must contain the sickle cell trait for a child to be born with sickle cell anemia. If only one parent has sickle cell trait, the child will not be born with sickle cell anemia, but he or she will have a 50% chance of having sickle cell trait.
Diagnosis
Sickle cell anemia can be diagnosed using a technique known as hemoglobin electrophoresis or high-performance liquid chromatography. This test detects and quantifies the various forms of hemoglobin found in red blood cells, including the abnormal hemoglobin that causes sickle cell anemia.
In Screening for sickle cell anemia, a blood sample is collected and sent to a laboratory to evaluate for abnormal red blood cell. Blood is frequently drawn from a finger or heel in young children and babies. In adults, it is drawn from a vein. A person with a sickle cell gene will certainly be directed to a genetic counselor.
The doctor may recommend additional tests to rule out any possible complications of sickle cell anemia.
- Stroke risk: Strokes occur in around 11% of patients with sickle cell anemia by the age of 20 and 24% by the age of 45. Anyone with sickle cell anemia, even babies, is at risk of having a stroke. Routine blood transfusions can reduce the risk of stroke.
- To determine which children are at an increased risk of stroke, a non-invasive test using a specialized ultrasound equipment may be performed on children as young as two. The sound waves can evaluate the blood flow in the brain.
- Sickle hemoglobin gene prenatal screening: Before a baby is born, healthcare providers can detect sickle cell anemia. Inquire with the doctor about this test if either one or both parents have sickle cell anemia or the sickle cell trait. The test is usually done by obtaining a sample of the biological mother’s amniotic fluid or tissue from the placenta. The samples are then examined for evidence of the sickle hemoglobin gene, which causes the illness.
Treatment
After the diagnosis, the healthcare provider may recommend medication and blood transfusions to manage potential complications. A stem cell transplant could treat the condition in certain adolescents and teenagers. The goal of the treatment is to avoid chronic pain episodes, reduce symptoms, and avoid further problems.
Medications
- Hydroxyurea (Droxia, Hydrea, Siklos, Mylocel): This anticancer medication is now used to treat sickle cell anemia, specifically in adults and children two years or older. This medication is not recommended for pregnant women.
The use of hydroxyurea daily reduces the amount of VOC/acute pain episodes by half, may lessen the need for blood transfusions and hospitalization, reduces the occurrence of acute chest syndrome, and reduces the symptoms of anemia. However, hydroxyurea may raise the possibility of getting an infection.
- L-glutamine oral powder (Endari): The FDA approved this medication in 2017 for treating sickle cell anemia in children aged five and older and adults. Sickled cells form throughout time, and L-glutamine prevents sickled cells from deforming further. L-glutamine alleviates some of the problems associated with sickle cell anemia, such as reducing the occurrence of chronic pain crises.
- Crizanlizumab (Adakveo): The FDA authorized this drug for people aged 16 and up in 2019. This medication can help minimize the frequency of VOC/acute pain crises or sudden bursts of intense pain. Common side effects include fever, back pain, nausea, and joint discomfort. Crizanlizumab is administered by injection.
- Voxelotor (Oxbryta): This medicine keeps sickled red blood cells from forming, and it may protect some red blood cells from being damaged faster than the bone marrow can replenish them. When taken orally, this medication can reduce the risk of anemia while improving blood circulation throughout the body.
Voxelotor was prescribed to treat sickle cell disease in adults and children over twelve. In late 2021, treating children aged four and above was approved. Headache, nausea, diarrhea, tiredness, rash, and fever are all potential side effects of this medication.
- Pain-relieving medications: To manage the VOC/acute pain crises related to sickle cell anemia, narcotics may be recommended.
Preventing infections
New medical interventions are available to improve the management of sickle cell anemia and allow patients to live a longer and better quality of life. As suggested by healthcare professionals, taking steps to protect self from infection is necessary for living well with sickle cell anemia.
Adults with sickle cell anemia, especially those with pneumonia or splenectomy, may be required to take penicillin for the rest of their lives. To prevent infections in children between the ages of 2 months and five years, penicillin may be also prescribed.
Immunizations are essential for disease prevention in children. It is important that a child receives all the necessary childhood immunizations, as well as and vaccines against pneumonia, meningitis, hepatitis B, and an annual flu shot. Vaccines are especially crucial for children since infections might be serious. It is also useful for adults.
Vaccination and isolation for people with sickle cell anemia is crucial during the COVID-19 pandemic. Taking extra measures are necessary to prevent infection.
Surgical and other procedures
- Blood transfusions: This is a common treatment in certain medical conditions such as sickle cell disease. A red blood cell transfusion involves the extraction of red blood cells from a source of donated blood and is then given through a vein via an intravenous line (IV) to a person with sickle cell anemia.
A blood transfusion is used to replenish blood and blood components that have been depleted which aids in the reduction of symptoms and problems. These are utilized to manage and prevent problems in persons with sickle cell disease, such as stroke. Receiving regular transfusions comes with risks. The body might have excess iron that can harm the heart, liver, and other organs. Treatment to lower iron levels may be required. Other risks include infection and an immunological reaction to the donor blood, which can make finding prospective donors difficult.
- Stem cell transplant: Transplantation is usually recommended for patients, often children who have serious symptoms and complications such as stroke, acute chest syndrome, or repeated VOC/acute pain crises from sickle cell anemia. Allogenic stem cell transplantation is the only approach for healthcare providers to cure sickle cell anemia and other kinds of sickle cell illness. Adult stem cell transplantation and gene treatments are now being studied in clinical trials. This surgery, also known as a bone marrow transplant, requires a matched donor, such as a sibling who does not have sickle cell anemia. The sickle cell anemia-affected bone marrow is replaced with healthy bone marrow from a donor.
