Sickle cell anemia

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.