Sickle cell anemia: what it is, symptoms, causes and treatment

Sickle cell anemia is a hereditary disease that causes a change in the shape of red blood cells, which, instead of being shaped like a disc, take on a shape similar to a sickle or half moon.

Due to this change, red blood cells become less capable of transporting oxygen throughout the body, which causes typical symptoms of anemia such as excessive tiredness and paleness. Furthermore, the altered shape of red blood cells also increases the risk of blockage of blood vessels, which can lead to other symptoms of sickle cell anemia such as generalized pain, weakness and apathy.

Sickle cell anemia can be treated with the use of medicines 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 present other characteristic symptoms:

• Bone and joint pain because oxygen arrives in smaller quantities, especially in the extremities, such as hands and feet;
• Golden crises 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 is an important organ in fighting infections;
• ​Delayed growth and pubertyas 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 a yellowish color in the skin and eyes.

These symptoms generally appear after 4 months of age, but the diagnosis is usually made in the first few days of life, as long as the newborn undergoes a heel prick test. Find out 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 a heel prick test in the first days of the baby’s life, which analyzes a blood sample taken from the heel. 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.

To confirm the diagnosis, a hemoglobin electrophoresis test can also be performed, which identifies the type of hemoglobin the person has, and in the case of sickle cell anemia, the presence of SS hemoglobin is checked. Learn more about hemoglobin electrophoresis and what the result means.

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.

Cause of sickle cell anemia

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

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

How the treatment is carried out

Treatment for sickle cell anemia involves the use of medication and in some cases a blood transfusion may be necessary.

The medicines used are mainly Penicillin in children from 2 months to 5 years of age, to prevent the appearance of complications such as pneumonia, for example. In addition, analgesic and anti-inflammatory medications can also be used to alleviate pain during a crisis and even use an oxygen mask to increase the amount of oxygen in the blood and make breathing easier.

Sickle cell anemia treatment must be carried out for life because these patients may present frequent infections. Fever can indicate an 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-reducing medicines should not be used without medical knowledge.

Is sickle cell anemia curable?

The treatment normally carried out for sickle cell anemia does not lead to a cure, as it is a genetic disease, and is carried out to alleviate symptoms and prevent complications. However, it is possible to achieve a cure, in some cases, through transplantation of hematopoietic stem cells, which are the precursor cells of blood cells, resulting in the formation of healthy red blood cells.

However, this type of treatment is only indicated for some serious cases selected by the doctor, and may be associated with some risks. See more about bone marrow transplantation.

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, 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;
• Impairment 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 dressings 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, scars, spots and stretch marks on the eyes, in some cases can lead to blindness;
• Stroke, due to difficulty in blood supplying the brain;
• Heart failure, with cardiomegaly, heart attacks and heart murmur;
• Priapism, which is a painful, abnormal and persistent erection not accompanied by sexual desire or excitement, common in young men.

Blood transfusions can also be part of the treatment, to increase the number of red blood cells in circulation, with only hematopoietic stem cell transplantation offering the only potential cure for sickle cell anemia, but with few indications due to the risks associated with the procedure. .