Sickle Cell Anemia

Sickle cell disease is a type of anemia due to genetic abnormalities where the form of red blood cells is not normal, resulting in lack of blood circulation in blood vessels and the spread of oxygen throughout the body. Under normal conditions, the form of red blood cells is round and flexible, so it is easy to move in blood vessels, whereas in sickle cell anemia, red blood cells have a form of rigid sickle that easily attaches to small blood vessels. As a result, the flow of red blood cells containing hemoglobin or oxygen-carrying proteins is blocked, causing pain and tissue damage.

Sickle cell disease usually has symptoms when the baby is 6 months old. This disease is common among people from Africa, the Caribbean, Asia and the Mediterranean. At present, there is no cure for sickle cell anemia. This treatment is intended to relieve symptoms and prevent other problems related to sickle cell disease.


Symptoms of sickle cell disease
Sickle cell disease symptoms can appear from the age of 4 months, but are usually seen only at the age of 6 months. These symptoms vary from patient to patient and can change with time. The most common symptom is anemia, where the blood does not have hemoglobin and causes symptoms such as dizziness, paleness, palpitations, fainting, weakness and fatigue. In children, it can also be marked by an enlarged spleen.

Besides anemia, another symptom that can be observed in patients with sickle cell anemia is pain associated with sickle cell crisis. Pain occurs when sickle-shaped red blood cells attach to blood vessels and block blood flow as they pass through small blood vessels in the chest, abdomen, joints, or bones. The pain varies and can last from a few hours to several weeks. Some patients can live a dozen times a crisis in one year. Sickle cell crisis in adolescents and adults can cause chronic pain due to injury or damage to bones and joints. Blockage of blood flow can also cause swelling and pain in the arms and legs. Various conditions are thought to trigger pain during the sickle cell crisis. In addition to meteorological factors such as wind, rain or cold, this crisis can also occur when sufferers become dehydrated, exercise too much or feel depressed. However, the main conditions that trigger the sickle cell crisis cannot be determined.

Patients with sickle cell disease may also have splenic lesions to fight infection. Therefore they will be vulnerable to infections, ranging from minor infections such as influenza to more serious and more dangerous infections such as pneumonia.

The growth of children with sickle cell anemia can be hampered by a lack of healthy red blood cells that provide nutrients and oxygen. This growth disorder can slow down their puberty as a teenager.

In addition to some of the symptoms described, people with sickle cell disease may have vision problems due to retinal damage due to blocked blood flow to the eye.

Patients with sickle cell disease should seek immediate medical attention if they have severe symptoms, including:

• The skin and whites of the eyes turn yellow.
• High fever.
• The stomach is swollen and very painful.
• Pain in the abdomen, chest, bones or joints that does not go away.
• Having symptoms of a stroke, which is associated with paralysis in parts of the body that cause difficulty walking, talking or sudden visual disturbances.

Causes of sickle cell anemia

Sickle cell disease is not a contagious disease. This disease is caused by genetic mutations inherited from both parents (which must be both) or called autosomal recessive. While children who inherit gene mutations from a single parent are only carriers of sickle cell anemia and have no symptoms. Genetic mutations in patients with sickle cell disease cause the production of red blood cells in an abnormal form, causing various disorders in the body.

Based on the gene mutation that occurs, there are several types of sickle cell anemia. The most common type is SS hemoglobin disease in which both parents decrease their copy of hemoglobin S. This type is characterized by severe symptoms. Sickle cell disease, which has symptoms as severe as SS hemoglobin, is thalassemia hemoglobin SB 0 (beta zero), and maybe even worse. Sickle cell disease types are mild hemoglobin SB (beta), thalassemia and hemoglobin SC, SD, SE or SO.

The probability of a child developing sickle cell disease with both parents with this disease is 25%. That is, one in four children has the possibility of suffering from sickle cell anemia. While 50% will carry asymptomatic symptoms, just like their parents and 25% have not inherited this genetic disease at all.
Diagnosis of sickle cell anemia
The diagnosis of sickle cell anemia is made by hemoglobin analysis to detect the presence of deformed hemoglobin S or hemoglobin that causes sickle cell disease. Normal Hb levels will also be controlled to determine the severity of anemia, so additional tests to detect possible complications can be performed.

To diagnose sickle cell anemia from the uterus, you can also take a sample of amniotic water to detect the presence of sickle cell genes.


Treatment of sickle cell anemia

Sickle cell anemia usually requires a lifetime of care. So far, the management of sickle cell disease has been aimed at preventing a repeat of the sickle cell crisis, reducing symptoms and preventing complications. Treatment of sickle cell disease includes:

• Bone Marrow Transplantation: The only treatment method that can cure this disease completely is a bone marrow transplant. With this method, the patient's bone marrow will be replaced by new bone marrow which is able to produce healthy red blood cells. However, this method can cause resistance in parts of the body to transplanted cells, which can actually attack other cells in the body. Given the risk of bone marrow transplantation, this procedure is only recommended for patients under 16 years of age, who have serious complications and who do not respond to other treatments.
• Overcome the sickle cell crisis. To overcome the sickle cell disease crisis, it is necessary to avoid the triggering factors. Some efforts to prevent triggers include drinking plenty of fluids to avoid dehydration, to wear clothes warm enough to stay cool, to avoid sudden changes in temperature, to avoid excessive exercise, to avoid alcohol and tobacco and to try to stay calm and not stressed. If the sickle cell crisis continues, the doctor will prescribe hydroxyurea. This drug is able to stimulate the body to produce a type of hemoglobin called fetal hemoglobin (HbF) which can prevent the formation of sickle cells. However, this drug can increase the risk of infection because it decreases white blood cell levels and is considered to have an adverse effect if consumed in the long run. In addition, this drug should not be taken by pregnant women.
• Pain management. To reduce pain in the case of sickle cell crisis, specifically:
• Compress the affected area with a hot towel.
• Divert the spirit of pain, for example by playing video games, watching movies or reading books.
• Drink plenty of fluids to help block blood flow.
• Take painkillers that are sold in pharmacies, such as paracetamol.

If the pain does not go away or is even more disturbing, see a doctor immediately. The doctor can prescribe stronger painkillers.

• Overcome anemia. To overcome the symptoms of anemia, doctors will provide folic acid supplements that can stimulate the production of red blood cells. If anemia is severe, a blood transfusion is needed to increase the number of red blood cells.
• Overcome stunting. For patients with sickle cell anemia in adolescents who have delayed puberty, the doctor will give hormone therapy.
• Prevention of infection. To prevent the risk of infection, doctors will advise patients with sickle cell anemia, especially children, to complete the vaccine. In addition to vaccination, your doctor will prescribe penicillin antibiotics for a long time. While for adult patients who have the spleen removed or who suffer from pneumonia, it is recommended to take penicillin antibiotics for life.
• Prevention of stroke. To prevent the risk of stroke, it is recommended to undergo transcranial Doppler examination (TCD scan) or carotid Doppler ultrasonography every year. This examination makes it possible to visualize the level of fluidity of blood in the brain.

Complications of sickle cell anemia

The presence of cork in blood vessels can reduce the function or even damage organs such as kidneys, spleen, liver and brain. This condition can cause several complications, including:

• Blindness, due to blockage of blood vessels in the eye, which in the long run will damage the retina.
• Acute thoracic syndrome and pulmonary hypertension due to blockage of sickle cells in the pulmonary veins. Both conditions are characterized by symptoms of shortness of breath that are classified as fatal.
• Stroke, due to blockage of blood flow in the brain.
• Gallstones, due to the accumulation of bilirubin substances produced from red blood cells that are damaged quickly. This can cause stomach pain and the body appears yellow (jaundice).
• Skin injury, due to a blockage in the blood vessels of the skin.
• Priapism or prolonged erections, which cause pain and can damage the penis and infertility. Priapism is caused by a blockage of blood flow to the penis.

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