Sickle Cell Anemia, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications

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Sickle Cell Anemia, Definition, Symptoms, Causes, Diagnosis, Treatment, Prevention, Complications

Sickle cell anemia is a genetic disorder that causes the shape of red blood cells to become abnormal. The abnormal shape of these blood cells results in a reduced supply of healthy blood and oxygen throughout the body.

Under normal conditions, red blood cells are round and flexible so they can move easily in blood vessels. While in sickle cell anemia, red blood cells are sickle-shaped, stiff, and easily clog small blood vessels, thereby blocking the supply of healthy blood and oxygen that the body needs.

Currently, there is no cure for sickle cell anemia. However, treatment can be given to control symptoms and prevent complications.

Causes of Sickle Cell Anemia

Sickle cell anemia is caused by a gene mutation that is passed on from both parents, and both parents must have this genetic disorder. This condition of inheritance of genetic traits is called autosomal recessive.

If the child only inherits one gene mutation, that is, only from one parent, then sickle cell anemia will not occur. However, he will be a carrier (carrier) sickle cell anemia gene mutation and can pass this genetic disorder to their offspring.

The probability of a child developing sickle cell anemia from both parents who are carriers of the disease is 25%. Based on the gene mutation that occurs, there are various types of sickle cell anemia. Each type has a different level of symptom severity. The most common type of sickle cell anemia is hemoglobin SS. Sickle cell anemia can cause severe symptoms.

In addition to hemoglobin SS, there is also a type of sickle cell anemia hemoglobin SB0 thalassemia. This type of anemia can even cause more severe symptoms than hemoglobin SS. However, the case is rare.

The other types are hemoglobin SC, SB thalassemia, SD, SE, and SO. This type of anemia generally shows only mild symptoms.

Symptoms of Sickle Cell Anemia

Symptoms of sickle cell anemia can appear as early as 4 months of age, but are generally not seen until 6 months of age. Symptoms for each patient are different and can change over time. The following are some of the most common symptoms:

Anemia
Sickle cells break down 6–12 times faster than normal red blood cells. This can result in reduced oxygen supply throughout the body. Symptoms that can appear due to this condition include dizziness, paleness, palpitations, feeling like passing out, shortness of breath, irritability, and fatigue.
In infants, anemia can inhibit growth. This growth disorder is also at risk of slowing the arrival of puberty when he grows up to be a teenager.

Sickle cell crisis
Sickle cell crisis is a symptom of pain that can appear in many parts of the body, such as in the chest, abdomen, or joints. Sickle cell crisis is the most common symptom experienced by people with sickle cell anemia, and occurs when sickle cells attach to blood vessels and block blood flow.

Symptoms of a sickle cell crisis can be triggered by certain conditions, such as dehydration, exercising too hard, feeling depressed, being pregnant, or being in a cold place.

In infants less than 1 year old, sickle cells can collect and block blood vessels in the spleen. This can lead to enlargement of the spleen and decreased function of the spleen, also known as splenic crisis. This condition can be characterized by an enlarged and painful left abdomen.

The pain can be mild to severe, and can last from a few hours to a few weeks. This condition can also cause chronic pain due to bone and joint damage or injuries from lack of blood flow.

Swelling of hands and feet
Blockage of blood flow can cause the arms and legs to become swollen and painful.

Infection
Sickle cell anemia can damage the spleen, which plays a major role in fighting infection. Therefore, people with sickle cell anemia tend to be more susceptible to infections, ranging from mild, such as the common cold, to more serious ones, such as pneumonia.
Visual disturbance

People with sickle cell anemia can experience vision problems, such as blurred vision, due to obstruction of blood flow in the eye. In some cases, the obstruction of blood flow to the eye can even lead to permanent blindness.

When to go to the doctor
Immediately consult a doctor if you experience the following symptoms:

The skin and whites of the eyes turn yellowish
Skin and nails look pale
High fever
Stomach is swollen and feels very sick
Severe pain in the abdomen, chest, bones, or joints that is recurrent and unexplained
Shows symptoms of a stroke, such as sudden paralysis or numbness of half of the body

If you are planning to become pregnant and you have a family member with sickle cell anemia, consult further with your obstetrician to determine the risk of this disease passing to your child.

Sickle Cell Anemia Diagnosis

The diagnosis of sickle cell anemia begins with a question and answer session about symptoms, the patient's medical history, and the patient's family history. If symptoms, complaints, or medical history point to sickle cell anemia, the doctor will perform additional tests to confirm it.

The following are some of the additional tests that can be performed:

Blood count test, to detect low hemoglobin levels in people with sickle cell anemia, usually around 6–8 grams/deciliter
Peripheral blood smear, to see the shape of defective red blood cells
Sickle cell solubility test, to see the presence of hemoglobin S
Hemoglobin electrophoresis, to determine the type of sickle cell anemia experienced

If the test results indicate the presence of sickle cell anemia, the doctor can perform further tests to determine whether the patient is at risk or is already experiencing complications.
Sickle cell anemia can also be detected in the womb. This diagnosis is made by taking a sample of amniotic fluid to look for the gene that causes sickle cell. This test can be performed on partners who are carriers of the sickle cell anemia gene.

Sickle Cell Anemia Treatment

Sickle cell anemia generally requires lifelong treatment. Treatment aims to relieve symptoms and prevent complications. Some of these treatments are:

1. Handling the sickle cell crisis
The main treatment for sickle cell crisis is to avoid triggering factors, such as:

Drink plenty of water to avoid dehydration.
Maintain a healthy diet, for example by regularly consuming fruits and vegetables.
Wear clothes that are warm enough when in cold temperatures.
Regular light-moderate exercise.
Avoid alcoholic beverages and cigarettes.
Manage stress well.

If the sickle cell crisis persists, 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 of its nature that lowers white blood cell levels. This drug is also suspected to have a negative effect on health if consumed in the long term. In addition, this drug should not be taken by pregnant women.

2. Pain management
Some ways that can be done to relieve pain are:

Taking over-the-counter pain relievers, such as paracetamol
Compress the sore area with a warm towel
Drink lots of water to smooth blocked blood flow
Take your mind off the pain, for example by playing video games, watching movies, or reading books.

If the pain doesn't go away or it gets worse, see a doctor immediately. Your doctor can prescribe stronger pain relievers.

3. Handling anemia
To overcome the symptoms of anemia, the doctor will give folic acid supplements which can stimulate the production of red blood cells. If the anemia is severe, a blood transfusion may be needed to increase the red blood cell count.

4. Infection prevention
To prevent infection, doctors will advise patients, especially children, to complete vaccinations. In addition, in pediatric patients, doctors may also prescribe the antibiotic penicillin for a long period of time, usually up to the age of 5 years.

However, if your child's sickle cell anemia causes severe symptoms, the child may need to take penicillin for life. Lifelong penicillin therapy is also recommended in adult patients who have had their spleens removed or who have had pneumonia.

5. Stroke prevention
Patients with sickle cell anemia are more at risk for having a stroke. Therefore, patients are recommended to undergo a transcranial Doppler scan every year. Through this examination, the smooth level of blood flow in the brain can be seen, so that when signs of a stroke occur, early detection and treatment can be carried out.

6. Bone marrow transplant
The only treatment method that can completely cure sickle cell anemia is a bone marrow transplant. Through this method, the patient's bone marrow will be replaced with donor bone marrow which can produce healthy red blood cells.

However, cells from bone marrow transplants are at risk of attacking other cells in the body. Therefore, this procedure is only recommended in patients under 16 years of age, with severe complications and not responding to other treatments.

Complications of Sickle Cell Anemia

The presence of blockage of blood vessels in an organ of the body can reduce the function or even damage the organ. This condition can cause several complications such as the following:

Blindness, due to blockage of blood vessels in the eye which over time will damage the retina
Acute chest syndrome and pulmonary hypertension, due to blockage of pulmonary arteries
Stroke, due to obstruction of blood flow in the brain
Gallstones, due to the buildup of bilirubin from damaged red blood cells
Osteomyelitis, resulting in a prolonged lack of blood supply to the bones
Wounds on the skin, due to blockage in the blood vessels of the skin
Priapism or prolonged erection, due to blockage of blood flow in the penis, which risks causing penile damage and infertility
Pregnancy complications, such as high blood pressure, blood clots, miscarriage, premature birth, and low birth weight

Sickle Cell Anemia Prevention

Sickle cell anemia is a genetic disorder, which means it is difficult to prevent. However, a carrier of sickle cell anemia can do genetic screening when planning a pregnancy, to find out the risk of this disease being passed on to the child and what steps can be taken to reduce this risk.

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