At five months, Erika Miranda, 31, was hospitalized for the first time with an Acute Thoracic Syndrome. Her parents didn’t know it, but it was a complication of sickle cell anemia, which had not yet been diagnosed.
At that time, it was not mandatory to carry out neonatal screening, which identifies some congenital diseases early in the maternity hospital. Therefore, São Paulo did not start adequate treatment early.
“I started having a lot of pain and hospitalizations for pneumonia as a child. I’ve lost count of how many times I stayed in the hospital. There were at least six in childhood and two monthly in adulthood to deal with the complications of sickle cell anemia,” he explains.
However, the hardest moment was losing her younger brother, who is eight years old. Leonardo also had the disease and died after a medical error. Having a very severe pain crisis, the doctors opted for a blood transfusion.
“I was 10 years old when it happened. My brother received a bag of blood that was incompatible with his blood type. It was a quick death. Leo is sorely missed,” laments the office assistant and model.
Living with complications
In addition to the constant pain, over the years, sickle cell anemia has left complications and sequelae in Miranda’s body. “I had two lung strokes, 11 pneumonias, some thrombosis and a stroke (cerebrovascular accident). I’ve been to the ICU (Intensive Care Unit) four times because of chest syndromes and I had a generalized infection.”
In addition, he performed two surgeries: one on the gallbladder and another on the liver.
When she had an ischemic stroke, Miranda felt severe headaches, lost strength and passed out. As she was rushed to the emergency room, the aftereffects were mild and temporary. She had difficulties with memory and motor coordination, but managed to recover.
However, sickle cell anemia increasingly disrupted their routine. The crises were recurrent and the complications did not stop. After the stroke, doctors decided that Miranda needed a BMT (bone marrow transplant).
The time of BMT and the beginning
Bone marrow transplantation is the procedure indicated in patients with sickle cell anemia in more severe cases. Despite being aggressive, since it destroys the marrow to reconstitute it and affects the immune system, BMT was the only chance for a cure. On April 2, 2021, the young woman underwent a haploidentical transplant, that is, with 50% compatibility.
“My father was the donor. I confess that I had no idea what was to come. I performed the BMT in the pandemic and had to stay away from my family, as there were visiting restrictions.”
In addition, during hospitalization, Miranda lost a friend who had undergone BMT also because of sickle cell anemia. “Her death shook my psyche, we were hospitalized together, but she had many complications. Those were difficult days.”
Currently, the model celebrates getting the marrow [quando a medula passa a produzir as células do sangue em quantidades suficientes] and he already feels good, as he has no more pain crises. Even so, he continues to follow up.
“I believe it will only be a matter of time before I no longer need a blood transfusion. Now I want to go back to studying, working, dancing and living a lot to take care of my family, who have always been by my side.”
Since 2017, she has been reporting her story and that of other people who also have sickle cell anemia on social networks (@irmasdefoice).
My dream is to found an NGO so that everyone with the disease also has a dignified and humanized care. Sickle cell anemia is still poorly understood. We need to make some noise!
Understand Sickle Cell Anemia
It is an inherited disease that causes changes in hemoglobin, that is, a protein that transports oxygen to the body and is found in red blood cells (or red blood cells). This mutation in the gene makes them look like sickles (or half moons): hence the sickle cell name.
Sickle red blood cells contain hemoglobin S, which crystallizes, forms thrombi and impedes the normal flow of blood. There is a stiffening of the red blood cells, which makes oxygenation to the organs difficult. This can lead to blood vessel blockage.
Symptoms such as generalized pain (in bones, joints and muscles), jaundice (yellowish color), infections and developmental delays appear.
It is noteworthy that in order to have the disease, the altered gene must be inherited from both the father and the mother. If it is transmitted by only one of the parents, the child is born with sickle cell trait, that is, he does not develop the disease, but can transmit it to his children.
According to data from the Ministry of Health, it is estimated that 60,000 Brazilians have sickle cell disease, which includes anemia. In Brazil, around 3,500 children are born each year with the health problem and 200,000 with sickle cell trait.
Furthermore, this health condition is more frequent in Afro-descendants due to genetic reasons. “But due to Brazilian miscegenation and migrations, sickle cell anemia does not only affect blacks, white people can inherit the disease from their ancestors”, highlights Fernando Barroso, head of the onco-hematology service at the Walter Cantídio University Hospital, in Ceará , from the Ebserh Network.
Diagnosis is made by means of the heel prick test, carried out on the newborn before leaving the maternity hospital. After discovering the disease, the patient needs lifelong follow-up.
According to Sandra Loggetto, hematologist and coordinator of the Pediatric Hematology and Hemotherapy Committee of the ABHH (Brazilian Association of Hematology, Hemotherapy and Cell Therapy), as the child is born with the genetic alteration, the diagnosis needs to be performed early.
“It is essential that neonatal screening is carried out in the maternity hospital. The heel prick test identifies several health problems, including sickle cell anemia. It is something quite simple”, he completes.
According to the doctor, the child with the disease is more susceptible to infections in childhood, increasing the risk of pneumonia and meningitis. Another more serious complication is blood sequestration in the spleen, which also filters the blood. In those who have the disease, in some cases, the spleen enlarges rapidly by “sequestering” blood from other organs, which can be fatal.
Therefore, it is essential to start the prevention of complications with vaccination and administration of antibiotics up to five years of age. The treatment is usually drug-based and helps the patients’ quality of life. “This avoids serious complications such as chronic anemia, the need for blood transfusions and pain crises,” says Loggetto.
According to Barroso, BMT is indicated only in very serious cases. “Especially in people up to 16 years old and with specific conditions. In these cases, the person is cured of sickle cell anemia, but needs constant monitoring”, he explains.
Although sickle cell disease was first reported in 1910, in Brazil, neonatal screening became mandatory for all newborns only in 1992. And there is still a great lack of knowledge among the population about the disease, the importance of the test of the little foot and its gravity.
For Altair Lima, researcher and founder of the Bahia Association of People with Sickle Cell Diseases, structural racism contributed to the delay in defining public policies for the early diagnosis and treatment of sickle cell anemia.
“It was not until 2005 that children and pregnant women with sickle cell anemia began to receive adequate monitoring and treatment. These rights were denied for nearly a century,” he says.
Lima highlights that sickle cell anemia is a public health problem and there was a lot of pressure from the black movement to change this scenario. “In 2011, with Rede Cegonha [estratégia do Ministério da Saúde lançada para reduzir a mortalidade materna e infantil] we fought for the inclusion of the hemoglobin electrophoresis test in prenatal care, which detects the disease in pregnant women. This reduces the mortality of these mothers who did not know they had sickle cell anemia,” he concludes.
Reference: Manual of Sickle Cell Anemia for the Population, Ministry of Health (pdf).