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What is Sickle Cell Anemia?
The anemia sickle cell, also called sickle cell disease or sickle cell anemia is an inherited blood disease and that happens due to the abnormal production of red blood cells, which deforms red blood cells. Membrane cells are altered and break easily, causing anemia. Because of this disruption, they become like a scythe, hence the term sickle cell.
This type of anemia happens when a person inherits two abnormal copies of their parents’ hemoglobin gene, one from each. Hemoglobin, which carries oxygen and gives color to red blood cells, is essential for the health of all organs in the body. The first symptoms usually appear between 5 and 6 months of age and several health problems can develop, such as infections and even strokes.
The life expectancy of people with sickle cell anemia can vary between 40 and 60 years of age and the people most affected are black women. It is believed that 8% of blacks in Brazil suffer from sickle cell anemia, but as the country has a lot of diversity, other races have also started to be affected, such as whites and browns.
Types
There are 4 types of sickle cell anemia. Two with an alpha chain and two with a beta chain.
Hemoglobin SS disease
Hemoglobin SS disease is the most common type of sickle cell disease. It occurs when the patient inherits copies of the hemoglobin S gene from both parents, which generates a hemoglobin known as Hb SS. Individuals with this form also experience the worst symptoms at a higher rate.
Hemoglobin SC disease
Hemoglobin SC disease is the second most common type of sickle cell anemia. It happens when the patient inherits the Hb C gene from one parent and the Hb S gene from the other. Individuals with Hb SC have symptoms similar to Hb SS, but the anemia is less severe.
Hemoglobina SB + (Beta) Thalassemia
Hemoglobin SB + (Beta) Thalassemia affects the production of beta globin genes. The size of the red blood cells is reduced because less beta protein is made. If the Hb S gene is inherited, the patient will have hemalamycin Beta thalassemia. The symptoms are not serious.
Beta-Zero Thalassemia
Beta-zero thalassemia is the second type of beta-thalassemia and has symptoms similar to Hb SS anemia. Sometimes, the symptoms of beta-zero thalassemia are more severe and are associated with a worse prognosis.
Cause
As already mentioned, sickle cell anemia is a lifelong inherited disease. Patients inherit two copies of the disease gene, one from the father and one from the mother, which causes the body to make hemoglobin abnormally. Hemoglobin is a protein that has a lot of iron and gives the cell a red color, in addition to carrying oxygen from the lungs to the rest of the body.
In sickle cell anemia, hemoglobins agglutinate when transporting oxygen to the body’s tissues. These blocks of hemoglobins make the red cells sickle-shaped and tend to stick together in the blood vessels.
Risk factors
There are some risk factors for people with sickle cell anemia, they are:
- Long-term infections;
- Blood loss due to surgery or injury;
- Diet with few vitamins, minerals or iron;
- Family history of inherited anemia, such as thalassemia and sickle cell anemia;
- Severe or long-term illness such as cancer, kidney disease, diabetes, rheumatoid arthritis, AIDS, heart failure and thyroid disease.
Symptoms of Sickle Cell Anemia
The symptoms of sickle cell anemia tend to vary widely. For some, the symptoms are mild and, for others, they can vary between one or several. Symptoms usually appear from 6 months of age.
Ache
Pain crisis is the main symptom of sickle cell anemia. The joints and bones are the most affected places, but these crises can affect any part of the body, with varying length of time. Generally, the pain is accentuated on cold days, during PMS , when infections occur and in people who have emotional problems or who are pregnant or dehydrated.
Infections
People who have sickle cell anemia are more likely to have infections, especially children, who are at greater risk of meningitis and pneumonia . Special vaccines can be applied to these types of patients to prevent the problem.
Hand-foot syndrome
In young children, bouts of pain can occur in the blood vessels of the feet and hands, causing pain, swelling and redness in the affected area.
Yellowish color in eyes and skin
It is the main symptom of the disease. This happens when the red blood cell breaks and a yellow pigment (bilirubin) appears in the blood, causing the eyes and skin to turn yellow (jaundice). It is not infectious and has nothing to do with hepatitis .
Leg ulcer
Common to happen near the ankles from adolescence, ulcers can take years to heal, if the treatment is not done correctly. Wearing thick socks and shoes is the way to prevent them.
Kidnapping of blood in the spleen
Children with sickle cell anemia can have an enlarged spleen quickly, the organ responsible for filtering the blood. This prevents the circulation from reaching other organs, causing the patient’s death.
Avascular necrosis
Avascular necrosis is a term used to describe the loss of bone tissue caused by a restriction of the blood supply.
In children with sickle cell anemia, necrosis usually affects the hip and the first sign may be groin pain. The pain can be persistent and last for several months. In cases considered severe, the child may need crutches and wheelchairs.
Priapism
Priapism is a persistent and painful erection of the penis and episodes can sometimes last for hours. Men with sickle cell anemia suffer from priapism because blood cells get stuck in the penis.
Most of the time, priapism happens for no apparent reason and usually occurs because of a sickle cell crisis.
Teenagers may feel embarrassed about priapism and often deny that the problem occurs. But, it is very important to report, due to the permanent damage that can occur, affecting even the erection capacity in the future.
Can Sickle Cell Anemia be cured?
The cure for the disease is still unknown, but it is known that some people have already been cured with bone marrow transplantation. It is important to focus on treatment to avoid complications from the disease.
Diagnosis
The doctor responsible for diagnosing and treating sickle cell anemia is the hematologist.
The diagnosis of the disease can be given through the heel prick test , performed when the child is born. Detailed research can still be done relating the patient’s clinical history to the symptoms.
The hemoglobin electrophoresis test, which consists of separating and measuring normal and abnormal hemoglobins, can be done so that the diagnosis is made more quickly, and, consequently, the treatment as well.
Stroke risk assessment can be done on children up to 2 years of age to find out if there is a greater risk of stroke. If the risk is really greater, treatment with blood transfusions can be done.
Treatment for Sickle Cell Anemia
There is a team of professionals to assist the patient with sickle cell anemia, composed of doctors, dentists, nurses, nutritionists, social workers and nutritionists. Despite all this support, children with sickle cell anemia must maintain normal development and growth, equal to that of healthy children.
When the disease is discovered early in life, the baby needs comprehensive care. In this phase, the professionals already mentioned guide the patient and family to discover the main symptoms of the disease, in addition to treating the problem in the best possible way.
In cases of exacerbations of anemia, blood transfusions can be performed. Stroke patients or some other serious complication can perform the procedure every 28 days. After the transfusion, the accumulation of iron (hemosiderosis) can happen and the treatment is done with the use of chelators, agents used to capture, transport and / or eliminate substances (mainly metals) from the body.
Experimental work is being done with gene therapy and the use of hydroxyurea has been shown to be useful, as it reduces the number of painful episodes and acute chest syndrome. This type of medication has been showing an increase in fetal hemoglobin, decreasing reticulocytes and leukocytes adhering to the endothelium and increasing nitric oxide levels.
It is necessary to be attentive, as patients cannot become pregnant during this treatment, as the risk of teratogenicity for the fetus is very great.
Studies of patients with hydroxyurea are the only ones that show that the constant use of the drug decreases the frequency and severity of sickle cell crises, also reducing the number of blood transfusions and hospitalizations. Hydroxyurea increases the risk of infections and there is some concern that long-term use of this drug may cause tumors or leukemia in certain people.
Scholars are using new drugs that improve blood flow and oxygen delivery to the body.
In addition, antibiotics are used to prevent infections, such as pneumonia . In addition, pain relievers can be used to relieve pain during a sickle attack.
Blood transfusions
During blood transfusion, red blood cells are removed from blood donated by someone else. The transfusion is performed intravenously in patients with sickle cell anemia and increases the number of normal red blood cells in circulation, relieving anemia. In children who are at high risk of stroke, transfusions can decrease the risk of the disease.
Transfusions cause a large amount of iron in the body that can damage the heart, liver and other organs. In these cases, using Deferasirox is indicated to reduce the risk of iron.
Supplemental oxygen
Using oxygen in a supplementary way, as in a breathing mask , makes the oxygen reach the blood and, thus, breathing becomes easier.
Bone marrow transplant
Transplantation is the exchange of the affected marrows for the healthy ones of a donor. The procedure should only be done if the symptoms are significant and if the anemia causes problems to the patient’s health.
In order for the transplant to take place, donor cells must be filtered and then injected into the bloodstream of the person with sickle cell anemia, causing new cells to be generated. Patients who undergo the transplant must stay for a long time in the hospital.
How to treat at home
There are activities that the patient can do at home so that the symptoms are reduced, they are:
- Feed yourself correctly with fruits, vegetables and grains indicated by the doctor;
- Regular exercise can reduce stress and crises;
- Use heated pads to decrease pain;
- Drink more water so that the crises are reduced;
- Take folic acid supplement , as recommended by medical hair.
Attention!
NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained on this site is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.
Complications
As the symptoms are significant and can affect the quality of life, complications can be fatal.
Stroke
The blood supply to the brain can become blocked causing serious problems.
Acute chest syndrome
The lungs’ ability to breathe oxygen is suddenly lost.
Pulmonary hypertension
The pressure of the blood inside the blood vessels that go from the heart to the lungs can become very high, causing a health hazard.
Vision problems
In cases of sickle cell anemia, blood vessels can be blocked by sickle cell cells causing problems with the retina, known as retinopathy.
Kidney problems
The kidneys can be damaged over time and problems can occur, such as:
- Blood in the urine;
- Bed wet;
- High blood pressure.
Depression
Sickle cell anemia can cause anxiety and stress due to the unpredictable condition of the disease. It is believed that more than 50% of patients suffer from depression at least once in their lifetime.
Some signs may show that there is depression, they are:
- Sleeping problems;
- Inability to maintain friendships;
- Changes in eating habits;
- Lack of will to live.
How to live with the problem?
It is important to take the sickle cell anemia patient quickly to the hospital in case of pain attacks. Using painkillers and investing in patient hydration is often not enough.
Going to the doctor is essential for him to evaluate the case and determine the procedures that should be done. In case of sudden pallor, it is necessary to go to the nearest hospital.
The life expectancy of patients with sickle cell anemia is 45 to 50 years of age. As ocular changes are common, such as retinopathy, visiting an ophthalmologist is often important for treatment.
Quality of life can improve by following these tips:
- Drink lots of water (about 8 glasses a day);
- The doctor may recommend folic acid supplementation;
- Avoid extreme temperatures;
- It is important to exercise, but it is necessary not to overdo it;
- Low oxygen levels can trigger a sickle attack.
Prevention
Requiring that the baby’s foot test be done while still in the hospital, right after birth, is essential to rule out the possibility of sickle cell anemia. If the disease is diagnosed, it is necessary to consult a specialist doctor as soon as possible.
Drinking a lot of water is essential to avoid dehydration. Exercising is very important, but you need to be attentive so that there is no shortness of breath. Maintaining a healthy diet is important for the correct development of the child.
Relaxation techniques can be important to avoid stress in people living with sickle cell anemia.
As anemia is very common, it is essential to know how to differentiate one from the others. Share with your colleagues so that they also have access to the text!
