Sickle cell diseases are among the most recurrent hereditary diseases in Brazil, with about 3,500 new cases each year, according to data from the National Neonatal Screening Program. Their occurrence varies between regions, being higher in locations that received a large contingent of Africans during the colonization period. This is because the gene that causes these diseases originates in specific regions of Africa. However, with the Brazilian population increasingly mixed, they can affect people of any race or territory.
In Brazil, the National Policy for Comprehensive Care for People with Sickle Cell Disease and other Hemoglobinopathies is responsible for managing public initiatives regarding these health issues. October 27 was established as a date to commemorate the struggle for the rights of these patients. According to scientist Wellington Silva, the cause needs the awareness and engagement of the whole society.
“Today much is known about these diseases,” he points out. “However, this knowledge has not yet been fully translated into benefits for the population; people still die as a result of lack of care.”
Silva is a doctor of genetics, and has dedicated 19 years to the study of sickle cell diseases and working for quality of life for patients in the Recôncavo region of Bahia. He has also shared his knowledge in lectures and with health students at the Adventist College of Bahia (Fadba), where he taught and developed most of his research. In an interview with Adventist South American News Agency, he clarifies some points about these diseases.
What are sickle cell diseases?
They are a group of about 12 pathologies, among which the best known is sickle cell anemia. These diseases are characterized by the presence of hemoglobin [protein present in red blood cells, responsible for the red coloration of blood and the transport of oxygen in the body] a mutant called Hemoglobin S. This mutation leads to the deformity of red blood cells, which acquire the shape of a sickle; hence the term “sickle cell”. This hinders the flow of these cells, resulting in a series of consequences related to a deficit in blood function.
How are they acquired?
These diseases are genetic and hereditary. Speaking specifically of sickle cell anemia, which is the most common in this group, it is necessary for the individual to inherit the mutation from the father and mother. If you receive this gene from just one parent, you will not develop the disease; you will only have the sickle cell trait, being able to transmit it to your descendants.
How do these diseases manifest themselves? What are the symptoms?
The patient with sickle cell disease has a very exuberant clinical picture. Symptoms begin to manifest from the sixth month of life, which is when fetal hemoglobin decreases and mutant hemoglobin starts to prevail. The child begins to experience intermittent bouts of pain. Deficiency in blood flow leads to ischemia, which can compromise various organs and tissues. If this damage occurs in the liver, for example, it can result in jaundice [yellow color of the skin and/or eyes caused by the high concentration of bilirubin in the bloodstream]. Cerebral ischemia, on the other hand, can cause a decrease in cognitive capacity and severe strokes.
Small infarctions are also common. The concentration of red blood cells in the thinnest blood vessels can result in dactylitis, which is the swelling of the extremities such as the fingers and toes. Splenic kidnapping can also happen, which is the impoundment of large amounts of blood in the spleen, causing swelling and pain in the abdomen. The immune system weakens, making the patient more susceptible to infections - and for that reason, it is essential that, in this pandemic period, the patient is in isolation. These are just a few of the many symptoms that can occur in people with sickle cell disease.
How is the diagnosis made?
Sickle cell anemia is identified by the famous little foot test, which is mandatory for every newborn in Brazil. If this test identifies the traces of the disease, the family is prompted to do a new test--hemoglobin electrophoresis--for confirmation. The correct diagnosis is essential so that the individual can avail themselves of their rights and receive the proper support from the State to have quality of life.
Can sickle cell diseases be cured?
The only possibility of a cure known today is through bone marrow transplantation, and the donor must be the patient's sibling and be compatible with them.
And treatment?
It is possible to perform self-care to mitigate the effects of the disease. The first thing to highlight is hydration; drinking plenty of fluids will make the blood more fluid. The second is to keep vaccinations up to date, as the individual is more susceptible to infections. The third caution is the continuous supplementation of folic acid. And it is the duty of the State* to provide all this to the patient with sickle cell disease, including specific vaccines that are not part of the general vaccination program. Apart from these precautions, if the patient has acute crises of the symptoms of the disease or any sign of infection, such as fever, they need to seek a doctor quickly.
* Brazilian law
This article was originally published on the South American Division’s Portuguese news site