Sickle cell anemia is a genetic disorder that causes the shape of red blood cells to become abnormal. This abnormality occurs because of a reduced supply of healthy, oxygen-rich blood throughout the body.
When the body is healthy, the shape of red blood cells is round and elastic or flexible, so it is very easy to move in the blood vessels. However, when someone has sickle cell anemia, the red blood cells will be sickle-shaped, stiff, and very easy to block small blood vessels. This will result in the obstruction of the supply of healthy blood rich in oxygen.
Symptoms of Sickle Cell Anemia
Symptoms of this disease appear since the child is 4 months old, but usually will only be clearly visible when the child is 6 months old. The symptoms that occur are certainly different for each person, but generally are as follows:
Anemia
Sickle cells are damaged 6-12 times faster than healthy red blood cells. This condition can lead to a lack of oxygen supply to the entire body. Symptoms that can occur due to this are heart palpitations, shortness of breath, paleness, dizziness, irritability, fainting, and fatigue.
Meanwhile, anemia that attacks babies can cause growth retardation. Growth disorders can also cause puberty to be delayed when they become teenagers later.
Sickle cell crisis
Sickle cell crisis is a pain that can occur in various parts of the body, such as the abdomen, joints, and chest. Sickle cell crisis is also the most common symptom in people with sickle cell anemia. This condition occurs because sickle cells attach to blood vessels so that blood flow is blocked.
There are certain conditions that can trigger symptoms of sickle cell crisis, such as excessive exercise, dehydration, feeling depressed, being pregnant, or being in a cold location. While in babies who are still under 1 year old, sickle cells can gather and cause blockage of blood vessels in the spleen organ. This condition can cause enlargement of the spleen organ and decreased function of the organ or known as splenic crisis.
This can be marked by an enlarged abdomen on the left side and then the appearance of pain. This condition can be mild to severe and occurs from a few hours to a few weeks. In addition, it can lead to chronic pain due to damage to joints or bones or wounds due to lack of blood.
Swelling and pain
Blockages in blood flow can also cause the legs and arms to swell and feel painful. This condition is called lymphedema in the medical world. This swelling usually occurs after certain symptoms. Therefore, you can find out more about Lymphedema Symptoms You Need to Be Aware of.
Infection
Sickle cell anemia can cause damage to the spleen, an organ that plays an important role in fighting infections. This is why sufferers are more susceptible to infections, from mild infections such as colds to more serious conditions such as pneumonia.
Vision problems
Other symptoms are the emergence of vision problems, such as blurred or hazy vision. This occurs because the blood flow to the eye is blocked. Some cases also show that the blockage of blood flow to the eye causes permanent blindness.
Causes of Sickle Cell Anemia
Sickle cell anemia is caused by a genetic mutation that is passed down from both parents. For this disease to occur, both parents must have the genetic disorder. This genetic inheritance is called autosomal recessive.
If a child inherits only one gene mutation or only one from both parents, this condition will not occur. However, the child will have the trait of being a carrier of the mutation of the gene that causes this type of anemia and can pass the condition on to subsequent offspring.
The probability of a child being affected by sickle cell anemia from both parents who are carriers of the trait is 25 percent. Meanwhile, when viewed from the gene mutation that occurs, sickle cell anemia is divided into several types. The most common type is hemoglobin SS. This condition can cause severe signs and symptoms.
In addition to hemoglobin SS, another type is hemoglobin SB0 thalassemia. This type of sickle cell anemia can even show more severe symptoms when compared to the hemoglobin SS type. Even so, hemoglobin SB0 thalassemia is rarely found or is a rare condition. The other types are SB thalassemia, SE, SD, SO, and hemoglobin SC. These other types will show mild symptoms.
Sickle Cell Anemia Diagnosis
The diagnosis of this disease will first include an interview about the symptoms experienced, the medical history of the sufferer and family. If the complaints, symptoms, and medical history point to sickle cell anemia, the doctor will conduct further examinations to obtain a more accurate diagnosis.
Some types of supporting examinations that a doctor might perform include:
- Blood count to detect hemoglobin levels in sufferers. Usually, for this condition, the hemoglobin levels a person has are between 6-8 grams/deciliter.
- Peripheral blood smear to see the shape of red blood cells that are damaged or deformed.
- Sickle cell solubility to see the potential for hemoglobin S problems.
- Hemoglobin electrophoresis to help determine the type of sickle cell anemia the patient has.
If the test results show sickle cell anemia, the doctor will usually perform several additional tests to determine whether the sufferer is at risk or has experienced complications.
In fact, sickle cell anemia can be detected since the baby is still in the womb. The examination method is by taking a sample of amniotic fluid to find out if there is a gene that causes sickle cell anemia. The examination is usually carried out on couples who have the trait of carrying the gene or carrier.
Sickle Cell Anemia Treatment
Sickle cell anemia is a type of anemia that requires lifelong treatment. The treatment is aimed at alleviating the symptoms experienced and preventing complications. Treatment options include:
1. Treatment of sickle cell crisis
This procedure aims to overcome sickle cell crisis, namely by avoiding various factors that trigger it, such as:
- Fulfill your body’s fluid intake to avoid dehydration.
- Discipline in implementing a healthy diet, such as consuming vegetables and fruit.
- Wear warm clothes when you are in a cold location.
- Do light exercise regularly?
- Avoid smoking and consuming alcoholic beverages.
- Manage stress well.
If the sickle cell crisis does not show any improvement, the doctor will usually prescribe the drug hydroxyurea. This drug is able to stimulate the body to make a type of hemoglobin called fetal hemoglobin or HbF to prevent the formation of sickle cells.
Unfortunately, the drug can increase the risk of infection because it has properties that can lower the levels of white blood cells in the blood. This drug can also have negative effects on health if consumed for a long time. In addition, this drug should not be consumed by pregnant women.
2. Treatment for pain
There are several things that sufferers can do to help relieve pain, including:
- Take painkillers that can be obtained from pharmacies, such as paracetamol.
- Compress the painful area using a warm towel.
- Drink lots of water to smooth the flow of blocked blood.
- Diverting or suggesting thoughts from the pain that arises, for example by reading a book, listening to music, or watching a film.
If the pain does not subside or disappear and even becomes more disturbing, immediately ask the doctor how to handle it. The doctor will usually prescribe medication to relieve stronger pain.
3. Treatment of anemia
To overcome the symptoms of anemia, doctors will provide vitamins or folic acid supplements that can help stimulate the formation of red blood cells. If the anemia is quite severe, sufferers can undergo blood transfusions to help increase the number of red blood cells.
4. Prevention of infection
Furthermore, to help prevent infection, doctors will advise sufferers, especially children, to have complete vaccinations. Not only that, children can also take penicillin antibiotics for long-term consumption, usually until the age of 5 years.
However, if sickle cell anemia in children shows severe symptoms, penicillin drugs may have to be used for life. This antibiotic therapy is also recommended for adult patients who have undergone spleen surgery or have a history of pneumonia.
5. Stroke prevention
People with this disease have a higher risk of having a stroke. This is why, sufferers will be advised by doctors to undergo a transcranial doppler scan every year. Through this examination procedure, doctors can see the level of blood flow in the brain. Later, if symptoms of a stroke occur, early treatment can be carried out by sufferers.
6. Bone Marrow Transplant
This is the only treatment procedure that can completely cure sickle cell anemia. Through this procedure, the sufferer’s bone marrow will be replaced by bone marrow from a donor who can produce healthy red blood cells.
However, the cells formed from the procedure can still be at risk of attacking other cells in the body. Therefore, this method is only recommended for sufferers who are still under 16 years old with severe complications and do not respond positively to other procedures.
Sickle Cell Anemia Complications
Blockages that occur in the blood vessels of one of the body’s organs certainly have an impact on the decline in function or even damage to the organ. This condition can trigger various complications, including:
- Blindness due to blockage of the blood vessels in the eye which can cause damage to the retina.
- Acute chest syndrome and pulmonary hypertension due to blockage of blood vessels in the lungs.
- Stroke occurs when blood flow to the brain is blocked.
- Gallstones are caused by the accumulation of bilirubin in damaged red blood cells.
- Osteomyelitis occurs because the blood supply to the bone is reduced over a long period of time.
- Wounds on the surface of the skin due to blockage of blood vessels in the organ.
- Priapism or persistent erection due to blocked blood flow in the penis. This condition can increase the risk of infertility because the penis is damaged.
- Complications in pregnancy, including blood clots, hypertension, miscarriage, low birth weight, and premature birth.
Sickle Cell Anemia Prevention
Sickle cell anemia is a health problem that occurs due to a genetic disorder. This means that this health problem is difficult to prevent. However, if you are a carrier of the gene, having a genetic test when planning a pregnancy will make you aware of the treatments that can be done and how big the risk is of passing the disease on to your child.
When to See a Doctor?
Immediately consult a doctor or have an examination at the nearest hospital if you experience the following symptoms:
- The skin and whites of the eyes change color to yellowish.
- Nails and skin appear pale.
- Fever.
- The stomach is swollen and very painful.
- Excruciating pain in the chest, stomach, joints, or bones that recurs without a clear cause.
- Showing signs and symptoms of stroke, such as sudden numbness or paralysis on one side of the body.
- If you are planning to get pregnant and have a family history of sickle cell anemia, immediately ask a gynecologist to find out the risk of inheritance in your offspring.