Sickle Cell Anemia Definition, Reason, Symptom, Treatment, Prevention
Definition
Sickle cell anemia is a blood disorder that occurs due to a genetic disorder, which is characterized by an abnormal shape of red blood cells. The abnormal shape of the red blood cells usually resembles a crescent moon.
This disease is common in Africa and America. Sickle cell anemia occurs in childhood and continues into adulthood.
Reason
Sickle cell anemia is caused by a mutation in a gene that causes a different form of hemoglobin, called HbS. The cause of this gene mutation is not known.
Sickle cell anemia can be exacerbated by:
- Cold air
- Being on a long-haul flight
- Infection
- Dehydration
- Drinking too much alcohol
- Emotional stress
- Pregnancy
Diagnosis
The incidence of sickle cell anemia is not a condition that often occurs in Indonesia. Many tests are needed to confirm the diagnosis and find out the complications that occur.
At the initial stage, the doctor will conduct a complete interview and a thorough physical examination of the patient. Then proceed with laboratory examinations in the form of examination of hemoglobin, leukocytes, platelets, kidney function (ureum, creatinine, and urine examination), liver function (SGOT, SGPT, and bilirubin), electrolytes, and oxygen saturation in the blood.
If it is suspected that sickle cell anemia is suspected from these various examinations, then the next step is to confirm it by conducting an electrophoresis examination. The examination is done by taking the patient’s blood, then dripping it in for electrophoresis to see what ‘ribbons’ will appear. If a high HbS level is obtained, it can be ascertained that there is indeed sickle cell anemia.
To see if there are complications from sickle cell anemia, doctors will sometimes also ask for various radiological examinations, such as:
- Chest X-ray to see the condition of the lungs, especially if it is suspected that the patient has acute chest syndrome which is characterized by chest pain and severe shortness of breath.
- CT scan to look for bone abnormalities caused by the death of many bone cells due to the ‘exhaustion’ of the bone marrow
- Doppler ultrasound for early detection of stroke risk
- Echocardiography to see the presence of swelling of the heart and hypertension in the pulmonary blood vessels
Symptom
Symptoms of crescent moon anemia seen since childhood, can even appear since infancy. The anemia experienced is severe enough that the sufferer looks pale, easily tired, weak, lethargic. In children, development can be slower than other children his age.
Although the disease is called crescent anemia, the symptoms are not only anemia. Other symptoms that often occur in patients are:
- Bone pain, especially in the bones in the lower limbs.
- Very easy to get infected
- Late sexual development
- Smaller stature than people his age
- Thin body
- Stroke at a young age
- Severe pain in the tips of the fingers and toes due to sudden constriction of blood vessels. In cases of severe constriction, deep, non-healing wounds can occur in the legs.
- Acute chest syndrome, which is characterized by fever, cough, severe chest pain
- Eyes bulge or visual acuity drops slowly
- The swollen heart is characterized by tightness and swelling in both lower limbs
- Gallstones that have occurred since childhood, characterized by intermittent right upper abdominal pain
- Erections that occur continuously without sexual stimulation
Treatment
Until now the treatment of sickle cell anemia is more to overcome the symptoms that appear, not to eliminate the disease.
Treatment to improve the condition of blood cells generally uses hydroxyurea. If people with sickle cell anemia experience severe pain, drugs containing opioids or the like may be given, such as methadone, morphine, fentanyl, or codeine. Sometimes antidepressants also need to be given to help reduce pain.
Because people with sickle cell anemia are susceptible to infection, they need vaccines to prevent some diseases. Among these are the pneumococcal, meningococcus, and influenza vaccines. If an infection has occurred, the doctor will consider giving antibiotics that can kill various types of bacteria. Vitamins such as folic acid are also needed for the formation of red blood cells.
If there are injuries to the fingertips, then proper wound care according to the doctor’s instructions is needed. In addition, if the anemia experienced is quite severe (especially if the hemoglobin level is below 6 mg/dl) then red blood cell transfusion is also needed.
There is now hope for a cure for sickle cell anemia, by means of a bone marrow transplant. The effectiveness of this treatment is still being studied.
Prevention
Until now sickle cell anemia can not be prevented. However, it is important to note that people with sickle cell anemia can pass the gene for the disease to their children.
Therefore, if someone with sickle cell anemia wants to have children, it is better to do genetic counseling with a doctor first to discuss the possibility of the child having the same disease as well.