Sickle cell disease should be diagnosed in childhood

Sickle cell disease should be diagnosed in childhood

Early diagnosis is made by foot test, performed on newborns within the Neonatal Screening Program. According to the Hospital da Criança in Brasilia, for every 1,200 births in the Federal District, at least one newborn has the disease.

Intense pain, medication, hospitalizations and blood transfusions. This is the daily life of more than 2,000 people in the Federal District affected by sickle cell disease. In Brazil, the number of patients rises to 30,000, according to the Ministry of Health. Chronic, inherited, and genetic disease is characterized by a failure in the structure of hemoglobin, which instead of being disk-shaped, looks like a sickle or waning moon, impairing oxygen transport through the body.

This Sunday (19) is World Sickle Disease Awareness Day, established in 2008 by the United Nations (UN). The proposal is to spread knowledge about the disease, to facilitate early diagnosis and treatment throughout the public network.

The heel test allows for the early diagnosis of sickle cell disease, also known as sickle cell anemia |  Photo: Breno Esaki / SES Archive
The heel test allows for the early diagnosis of sickle cell disease, also known as sickle cell anemia | Photo: Breno Esaki / SES Archive

Early diagnosis is made by foot test, performed on newborns within the Neonatal Screening Program. The child is then monitored periodically at the Hospital da Criança in Brasília (HCB), with specialized equipment, a special vaccination schedule and folic acid supplementation. The family receives support, guidance and self-care techniques.

“It’s not just anemia. With the alteration of the red blood cell vasculature, we understand that it is a systemic disease, which can damage all the organs of the body.”Isis Magalhães, technical director of the Children’s Hospital of Brasilia

According to HCB data, for every 1,200 births in the Federal District, at least one newborn has the disease, and the unit currently cares for 741 sickle cell children. Of these, 87 are part of the regular transfusion program to prevent stroke, one of the threats of the disease.

Last Wednesday (15), the Fundação Hemocentro de Brasilia (FHB) held an event to celebrate the day of dissemination of knowledge and information about sickle cell anemia, with the participation of patients and health professionals.

Pediatric hematologist Isis Magalhães, technical director of HCB, explains that sickle cell disease directly affects patients’ routine, with pain attacks, progressive kidney failure and increased susceptibility to infections, as well as the risk of changes in neurological development. “It’s not just anemia. With the alteration of the vasculature of red blood cells, we understand that it is a systemic disease, which can damage all the organs of the body,” explains the hematologist.

Art: Brasilia Agency
Art: Brasilia Agency

He stressed the importance of the whole society understanding that sickle cell disease causes chronic pain and various other health problems. “It’s a public health problem that needs to be known by everyone and attended to by everyone in the emergency department. This involvement of civil society is very important for the search for public policies that protect and facilitate the lives of patients “, he adds.

systemic support

Blood Center promoted an event on World Sickle Disease Awareness Day  Photo: Paulo H. Carvalho / Brasilia Agency
Blood Center promoted an event on World Sickle Disease Awareness Day Photo: Paulo H. Carvalho / Brasilia Agency

The Fundação Hemocentro de Brasília (FHB), as responsible for the management of the DF Blood System, Components and Blood Products, coordinates the comprehensive care policy for patients with sickle cell disease. Technical training is promoted for health professionals and students in the area, to guide patients with hemoglobinopathies. Multiprofessional care at any level of care is the responsibility of the DF Department of Health.

Osnei Okumoto, director and president of the Fundação Hemocentro de Brasília (FHB), explains that all the blood donated is subjected to laboratory tests to check the quality of the entry. But in the case of phenotyped blood, which is transfused to patients with sickle cell disease, the attention is even greater.

“In addition to identifying this person’s blood type, we detect several other antigens to identify the best blood for sickle cells. It’s an extra compatibility so that these people don’t develop resistance and disease control is done. more difficult, ”explains Osnei.

The manager adds that the disease cannot be neglected. “It is an extremely dangerous disease in relation to neurological problems of all kinds. It is essential that we can see patients in a different way to offer a better quality of life, ”he says.

daily suffering

Elvis Magalhães, who coordinates the Brazilian Association of People with Sickle Anemia, was one of the first people in Brazil to be cured |  Photo: Paulo H. Carvalho / Brasilia Agency
Elvis Magalhães, who coordinates the Brazilian Association of People with Sickle Anemia, was one of the first people in Brazil to be cured | Photo: Paulo H. Carvalho / Brasilia Agency

Elvis Magalhães, 54, lived for 38 years with a severe form of sickle cell anemia. There were hundreds of trips to and from the hospital, side effects, medications and unsuccessful treatments. Until she had the chance to be transplanted with her little brother’s bone marrow and everything changed, being one of the first people in Brazil to be cured of the disease.

“There is hope for people with sickle cell disease and we are fighting for more people to have access to a cure.”Elvis Magalhães, coordinator of the Brazilian Association of People with Sickle Cell Anemia

“Do you know this commitment to the disease I had? It’s over. Yes, I continue to take care of myself, but it’s very good to live more calmly. I no longer hoped that anything would improve, but when the I was very happy. ”Since 2015, more than 150 people with sickle cell disease have received bone marrow transplants in Brazil, six of whom live in the Federal District.

Elvis is currently the coordinator of the Brazilian Association of People with Sickle Cell Anemia (Abradfal) and advocates, with nails and teeth, for public policies that help the lives of patients directly affected by the disease. “There is hope for people with sickle cell disease and we are fighting for more people to have access to a cure. The progress we have made in recent years is unquestionable, but there is still a long way to go,” he added.

Hope

“I knew nothing about the disease, nothing. Only after much suffering did I stop and study, because I needed to help my son, ”says Emerson Silva. Photo: Paulo H. Carvalho / Brasilia Agency

Public servant Emerson Silva, 48, was unaware of the disease until his first child, Victor Hugo, was diagnosed at the age of one. Today – the father of another child who also has sickle cell disease, 9-year-old Rafael – understands the symptoms, treatment and treatment of the disease, as well as participating in awareness-raising events and conferences.

“My children’s lives have been saved several times, in hospitalizations and transfusions. Humanized treatment and knowledge about the disease saves “Emerson Silva, clerk

The discovery of the firstborn’s illness came unexpectedly: on a visit by the boy to his grandmother at work, a local doctor warned that the boy had sickle cells, after recognizing signs such as hands and swollen feet, and which had to be examined urgently. . Even without believing in the visual diagnosis, transmitted by the boy’s grandmother, Emerson took the boy to the doctor and had a negative surprise.

“I knew nothing about the disease, nothing. It was only after much suffering that I stopped and studied, because I needed my son to help me, ”recalls the official. Victor Hugo had to have his spleen removed as a child and underwent other surgeries throughout his life, as well as hundreds of hospitalizations to control the pain attacks.

But even with the difficulty imposed by the disease, he managed to maintain a pleasant life, studying and working. However, on December 21, 2021, while on vacation at his grandmother’s house in Rio de Janeiro, Victor Hugo died. He was 23 years old.

“It was the only crisis in which I was not there to help, to show doctors what my son needed,” laments Emerson, who also emphasizes the importance of medical knowledge and the credibility of patient pain.

Now, the person living with the pain is Emerson, who is gaining strength to continue the fight to raise awareness about the disease. “When everyone knows what it is, how it is treated, everything will be better,” he says.

The second child, Rafael, has a milder form of sickle cell disease and is most often treated at home. When he was born, there was hope that he would be compatible with the big one, for bone marrow transplantation, but unfortunately it was not possible. “My children’s lives have been saved several times, in hospitalizations and transfusions. Humanized treatment and knowledge of the disease save, ”he concludes.

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