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General Practice 2023

Sickle cell anemia: what é, symptoms, causes and treatment

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Sickle cell anemia: what é, symptoms, causes and treatment
Sickle cell anemia: what é, symptoms, causes and treatment
Anonim

Sickle cell anemia is an inherited disease that causes changes in the shape of red blood cells, which, instead of having the shape of a disk, are shaped like a sickle or half moon.

Due to this change, red blood cells become less able to transport oxygen throughout the body, which causes typical symptoms of anemia such as excessive tiredness and paleness. In addition, the altered shape of red blood cells further increases the risk of blood vessel blockage, which can lead to other symptoms of sickle cell anemia such as generalized pain, weakness and apathy.

Sickle cell anemia can be treated with medication that must be taken throughout life to reduce the risk of complications, however the cure only happens through hematopoietic stem cell transplantation.

Main symptoms

Sickle cell anemia causes symptoms similar to any other type of anemia, such as tiredness, paleness and sleepiness. However, it may also have other characteristic symptoms:

  • Pain in bones and joints because oxygen reaches less, especially in the extremities, such as hands and feet;
  • Pain attacks in the abdomen, chest and lumbar region, 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 is an important organ in fighting infections;
  • Delayed growth and puberty as red blood cells in sickle cell anemia provide less oxygen and nutrients for the body to grow and develop;
  • Yellowish eyes and skin due to the fact that red blood cells "die" faster and, therefore, the bilirubin pigment accumulates in the body causing a yellowish 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 heel prick 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 through the heel prick test in the first days of the baby's life, which analyzes a blood sample taken from the heel.

In addition, the diagnosis of sickle cell anemia can also be made through the measurement of bilirubin in the blood test, in people who did not undergo the heel prick test at birth. In these cases, the presence of sickle-shaped red blood cells, the presence of reticulocytes, basophil stippling and a hemoglobin value below the normal reference value, normally between 6 and 9.5 g/dL, are observed.

What causes sickle cell anemia

Sickle cell anemia is a genetic and hereditary disease, which means that, in some cases, it is passed from parents to children.

Whenever a person is diagnosed with the disease, it means that they have the SS gene (or SS hemoglobin). Although the parents may not have sickle cell anemia, if both parents have the AS gene (or AS hemoglobin), it is indicative that they are carriers of the disease, which means that there is a chance that the child will have the disease (25% chance) or be carrier (50% chance) of the disease.

How the treatment is done

Treatment for sickle cell anemia is done with medication 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 avoid the appearance 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 make breathing easier.

Treatment of sickle cell anemia should be lifelong because these patients may have frequent infections. Fever can indicate infection and so if a person with sickle cell anemia has a fever, they should go to the doctor immediately because septicemia can develop in just 24 hours, which can be fatal. Medicines to reduce fever should not be used without medical knowledge.

In addition, bone marrow transplantation is also a form of treatment, indicated for some serious cases and selected by the doctor, and may cure the disease, however it presents some risks, such as the use of medicines that reduce immunity. Find out how bone marrow transplantation is performed 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 makes them swollen and very painful and deformed;
  • Increased risk of infections due to compromised spleen, which will not filter the blood properly, thus allowing the presence of viruses and bacteria in the body;
  • Involvement of the kidneys, with increased urinary frequency, it is also common for the urine to be darker and for the child to wet the bed until adolescence;
  • Leg wounds that are difficult to heal and require dressing twice a day;
  • Involvement of the liver that manifests itself through symptoms such as yellowing of the eyes and skin, but which is not hepatitis;
  • Gallbladder stones;
  • Decreased vision, scars, blemishes and stretch marks in the eyes, in some cases can lead to blindness;
  • stroke, due to blood difficulty in irrigating the brain;
  • Heart failure, with cardiomegaly, infarctions and heart murmur;
  • Priapism, which is a 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 hematopoietic stem cell transplantation offers the only potential cure for sickle cell anemia, but with few indications due to the risks associated with the procedure.

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