What is sickle cell anemia?

Sickle cell disease is a hereditary genetic disorder caused by a mutation in the hemoglobin found in red blood cells. Its sickle shape alters the cell membrane, making the cells more prone to rupture, which reduces the transport of oxygen to organs and tissues. Its incidence is higher among people of African descent; however, due to the racial mixing in the Brazilian population, it is also possible to find white individuals with the disease.

Symptoms

The clinical presentation includes anemia, along with intense pain crises in the back, legs, and arms. If not properly treated, it can lead to dysfunction in various organs, such as retinal disease, chronic kidney failure, heart disease, pulmonary hypertension, among others.

In more severe cases, the patient may experience:

aplastic crisis: when the bone marrow stops producing blood, usually associated with a viral infection
splenic sequestration crisis: characterized by blood pooling in the liver, accompanied by abdominal pain and a sharp drop in hemoglobin levels
acute chest syndrome: the patient experiences shortness of breath, fever, and chest pain

Because it is a hereditary disease, babies are born with the condition. Early diagnosis is made through the newborn screening test (heel prick test). However, if the disease is not detected at birth and the child shows symptoms such as recurrent infections, fatigue, jaundice, leg ulcers, or pneumonia, it may indicate something is wrong. In this case, the test used to detect sickle cell anemia is hemoglobin electrophoresis, a specific laboratory test that analyzes the presence of hemoglobin S.

Treatment

The earlier the diagnosis is confirmed, the better. Ideally, the patient should receive proper follow-up care with multidisciplinary support at a specialized center. The involvement of social workers, psychologists, ophthalmologists, and physical therapists is also important in the treatment of sickle cell disease and should continue throughout the patient’s life. It is also very important to maintain regular diagnostic testing to prevent chronic complications such as stroke, heart conditions, and to monitor hemoglobin levels.

Currently, there is drug treatment with hydroxyurea, which helps increase fetal hemoglobin and improves patients’ quality of life. Curative treatment is only possible through bone marrow transplantation, which is recommended only for individuals up to 16 years old and under specific conditions.

By the Einstein Editorial Board