Haploidentical transplant is an option for sickle cell disease – 11/09/2023 – Health

Gabriel Bernardes dos Santos, 22, was recommended a bone marrow transplant after developing complications from sickle cell disease, but he did not have a donor. Gabriel’s diagnosis came at three months of age. His mother, Katia, had to take the baby to the emergency room because of an ear infection and the yellow color of his eyes.

His two brothers were 100% compatible with each other, but he was not. And looking for someone who is not a relative is not an option in the case of this illness. The solution, then, was to receive the bone marrow from his mother, Katia, even with 50% compatibility.

The disease is hereditary, affects the blood and triggers different symptoms. In Gabriel, the consequences were intense and frequent pain attacks, spleen sequestration (requiring surgery to remove the organ), pneumonia and infections. It is also common for some patients to suffer a stroke.

Sheyla Ventura, 44, social worker and president of Aprofe (Associação Pro Falcemicos), recalls some situations she went through. Diagnosed at age seven, she lost five siblings who also had the condition. “I needed to use morphine patches to alleviate the attacks. The medical team said I was addicted to the medicine, because I took it and continued screaming in pain,” she says.

Gabriel also experienced dramatic situations. “In one of the crises, the kidney stopped. He went into a coma and was in the ICU for seven days. At that moment, I realized that I was losing my son and I needed to do something”, says Katia.

After a conversation between her, the medical team and Gabriel (already 18 years old), they chose to use the mother’s marrow.

The so-called haploidentical transplant, when there is not 100% compatibility, has been shown to be a potential solution for people with sickle cell disease. It is made with cells from partially compatible family members, which expands the possibility of finding a donor.

Adriana Seber, hematologist, pediatric oncologist and vice-president of SBTMO (Brazilian Society of Cellular Therapy and Bone Marrow Transplantation), says that the modality began to be used in Brazil to treat diseases such as leukemia.

Currently, it is more common. The latest SBTMO report analyzed data from 40 blood centers in Brazil and pointed out that, in this sample, the procedure surpassed, in quantity, the 100% compatible marrow transplant since 2020.

“For sickle cell disease, it was a longer path. This is because the marrow of these patients is more resistant, which increases the chances of rejection”, says Seber.

According to the doctor, in haploidentical transplantation, the patient’s immune system takes longer to recover, and the risk of complications is higher.

Today, Gabriel is well and is thinking about the future. “It’s been three months since I started working and went back to studying,” he says.

At the end of October, the Minister of Health, Nísia Trindade, announced that the disease will become compulsory notification. The statement took place during the launch ceremony of the Black Population Health Epidemiological Bulletin.

The disease mainly affects the black population and manifests itself when the person receives the mutation from both parents (father and mother). If the child receives the mutation for just one of them, he or she has the sickle cell trait and does not develop symptoms.

The bulletin shows, for example, that there were more deaths of black people (26.75%) and brown people (52.43%) than of white people (16.15%) in Brazil between 2014 and 2020.

The disease is caused by a change in the hemoglobin gene, a protein present in red blood cells. They take on a sickle shape (hence the name sickle cell) and harden, making it difficult for blood to circulate throughout the body.

The test that detects the disease or trait has been included in the heel prick test since 2001. According to the National Neonatal Screening Program, in 2022, 1,115 new cases and 62,890 of the trait were recorded. The total number of people affected is not known exactly — the most recent data says between 60,000 and 100,000.

“For us, the Ministry of Health’s step is fundamental. Today, there is still a lot of underreporting. And if you don’t have enough data, you can’t change reality”, says Maria Zenó, general coordinator of Fenafal (National Federation of Health Associations). People with Sickle Cell Disease).

According to Zenó, patients also face obstacles in accessing adequate treatment.

This year, for example, public pharmacies in the Federal District were out of stock of hydroxyurea for four months. The medicine works by reducing the occlusion of blood vessels and is essential in managing the condition.

In response, the SES-DF (Health Department of the Federal District) stated that there had been “bidding failures”.

The acquisition and distribution of hydroxyurea are the responsibility of the states, and the Ministry of Health transfers the resources. “Our fight is for the Union to take over the centralization of purchasing. This is because when medicines are missing, mortality from the disease increases”, says Zenó.

Furthermore, the lack of professional training and prejudices worsen patients’ quality of life. “We know that racism is a social determinant of health. This ends up making access to technologies difficult and makes the disease invisible.”

This report was produced during Folha’s 8th Science and Health Journalism Training Program, which has the support of the Serrapilheira Institute, the Roche Laboratory and the Sociedade Beneficente Israelita Brasileira Albert Einstein