Sickle cell anemia: main symptoms and how treatment is done

Sickle cell anemia is a disease characterized by a change in the shape of the red blood cell due to a mutation in one of the constituent chains of hemoglobin, with a decrease in the capacity of binding to oxygen and possible obstruction of blood vessels due to the altered shape, which can lead to generalized pain., weakness and apathy.

In people diagnosed with sickle cell anemia, part of the red blood cells are not round, but in the shape of a sickle or half moon, with greater difficulty in passing through the veins and transporting oxygen to the tissues.

The symptoms of this type of anemia can be controlled with the use of drugs that must be taken throughout life to decrease the risk of complications, however the cure only happens through bone marrow transplantation.

The diagnosis of sickle cell anemia is made in newborns by means of the heel prick test, being more common in African descendants, but due to miscegenation in Brazil, Caucasian and brown people can also be affected. In addition to the heel prick test, this type of anemia can be diagnosed by means of hemoglobin electrophoresis of a blood sample, in which the presence of an abnormal type of hemoglobin characteristic of sickle cell anemia, HbS, can be detected. Learn how to interpret hemoglobin electrophoresis.

Main symptoms

In addition to the common symptoms of any other type of anemia, such as tiredness, pallor and sleep, sickle cell anemia produces other characteristic symptoms, such as:

• Anemia, because red blood cells, due to their sickle-shaped appearance, "die" more quickly, with decreased oxygen and nutrient transport; Tiredness and pallor because of reduced oxygen and nutrients in the brain and the rest of the body; Pain in bones, muscles and joints because oxygen arrives in lesser quantity; Swollen hands and feet, as blood has a harder time reaching the extremities; Frequent infections because red blood cells can damage the spleen, which helps fight infections; Growth retardation and delayed puberty, as sickle cell anemia red blood cells provide less oxygen and nutrients for the body to grow and develop; Yellow eyes and skin due to the fact that 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.

What are the causes

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 hemoglobin SS) 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 drugs 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 life 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; urinary frequency, it is common for urine to be darker and the child to wet the bed until adolescence; wounds on the legs that are difficult to heal and that need dressing twice a day; impairment of the liver that manifests itself through symptoms such as yellowish color in the eyes and skin, but it is not hepatitis; gallstones; decreased vision, scars, spots and streaks in the eyes, in some cases can lead to blindness; stroke, due to the difficulty of the blood in irrigating the brain.

Blood transfusions can also be part of the treatment, to increase the number of red blood cells in the circulation, and only bone marrow transplantation offers the only potential cure for sickle cell anemia, but it can be difficult to find a donor.

How to diagnose sickle cell anemia

The diagnosis of sickle cell anemia is usually made by testing the baby's foot in the first days of life. This test is capable of doing a test called hemoglobin electrophoresis, which checks 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-shaped red blood cells, the presence of reticulocytes, basophilic speckles and hemoglobin value below the normal reference value, usually between 6 and 9.5 g / dL.