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Sickle cell anemia is a disease characterized by changes in the shape of red blood cells, which are shaped like a sickle or half moon. Because of this change, red blood cells become less able to carry oxygen, in addition to increasing the risk of blood vessel obstruction due to the altered shape, which can lead to widespread pain, weakness and apathy.
The symptoms of this type of anemia can be controlled with the use of medicines that must be taken throughout life to reduce the risk of complications, however the cure only happens through the transplantation of hematopoietic stem cells.
Main symptoms
In addition to the common symptoms of any other type of anemia, such as tiredness, pallor and sleep, sickle cell anemia can also cause other characteristic symptoms, such as:
- Pain in bones and joints because oxygen arrives in lesser quantities, mainly in the extremities, such as hands and feet;
- Crises of pain in the abdomen, chest and lower back, due to the death of bone marrow cells, and may be associated with fever, vomiting and dark or bloody urine;
- Frequent infections because red blood cells can damage the spleen, which helps to fight infections;
- Growth retardation and puberty delay, as the red blood cells of sickle cell anemia provide less oxygen and nutrients for the body to grow and develop;
- Yellow eyes and skin due to the fact that the red blood cells "die" more quickly and, therefore, the bilirubin pigment accumulates in the body causing the yellow color in the skin and eyes.
These symptoms usually appear after 4 months of age, but the diagnosis is usually made in the first days of life, as long as the newborn does the baby's foot test. Learn more about the heel prick test and what diseases it detects.
How to confirm the diagnosis
The diagnosis of sickle cell anemia is usually made by testing the baby's foot in the first days of the baby's life. This test is capable of doing a test called hemoglobin electrophoresis, which checks for the presence of hemoglobin S and its concentration. This is because if it is found that the person has only one S gene, that is, AS type hemoglobin, it means that he is a carrier of the sickle cell anemia gene, being classified as a sickle cell trait. In such cases, the person may not show symptoms, but must be followed up through routine laboratory tests.
When a person is diagnosed with HbSS, it means that the person has sickle cell anemia and should be treated according to medical advice.
In addition to hemoglobin electrophoresis, the diagnosis of this type of anemia can be made through the measurement of bilirubin associated with the blood count in people who have not undergone the heel prick test, and the presence of sickle cells in the form of scythe, presence of reticulocytes, basophilic speckles and hemoglobin value below the normal reference value, usually between 6 and 9.5 g / dL.
Possible causes of sickle cell anemia
The causes of sickle cell anemia are genetic, that is, it is born with the child and is passed from father to son.
This means that whenever a person is diagnosed with the disease, he has the SS gene (or SS hemoglobin) that he inherited from his mother and father. Although the parents may look healthy, if the father and mother have the AS gene (or hemoglobin AS), which is indicative of the carrier of the disease, also called sickle cell trait, there is a chance that the child will have the disease (25% chance) or be a carrier (50% chance) of the disease.
How the treatment is done
The treatment for sickle cell anemia is done with the use of medications and in some cases blood transfusion may be necessary.
The drugs used are mainly Penicillin in children from 2 months to 5 years of age, to prevent the onset of complications such as pneumonia, for example. In addition, analgesic and anti-inflammatory drugs can also be used to relieve pain during a crisis and even use an oxygen mask to increase the amount of oxygen in the blood and facilitate breathing.
The treatment of sickle cell anemia must be carried out for a lifetime because these patients may have frequent infections. Fever can indicate infection, so if a person with sickle cell anemia has a fever, they should go to the doctor immediately because they can develop septicemia in just 24 hours, which can be fatal. Fever-lowering drugs should not be used without medical knowledge.
In addition, bone marrow transplantation is also a form of treatment, indicated for some severe cases and selected by the doctor, which may come to cure the disease, however it does present some risks, such as the use of medications that reduce immunity. Find out how bone marrow transplantation is done and possible risks.
Possible complications
Complications that can affect patients with sickle cell anemia can be:
- Inflammation of the joints of the hands and feet that leaves them swollen and very painful and deformed;
- Increased risk of infections due to the involvement of the spleen, which will not filter the blood properly, thus allowing the presence of viruses and bacteria in the body;
- Kidney impairment, with increased urinary frequency, it is also common for the urine to be darker and the child to wet the bed until adolescence;
- Wounds on the legs that are difficult to heal and require dressing twice a day;
- Liver impairment that manifests itself through symptoms such as yellowish color in the eyes and skin, but which is not hepatitis;
- Gall stones;
- Decreased vision, scarring, spots and stretch marks in the eyes, in some cases can lead to blindness;
- Stroke, due to the difficulty of the blood in irrigating the brain;
- Heart failure, with cardiomegaly, heart attacks and heart murmur;
- Priapism, which is the painful, abnormal and persistent erection not accompanied by sexual desire or arousal, common in young men.
Blood transfusions can also be part of the treatment, to increase the number of red blood cells in the circulation, and only the transplantation of hematopoietic stem cells offers the only potential cure for sickle cell anemia, however with little indication due to the risks associated with the procedure. .