Almost half of Brazilians are unaware of the most prevalent hereditary disease in the country, points out unprecedented research

According to an unprecedented survey carried out by IBOPE Inteligência, 47% of the population claims they have never heard of Sickle Cell Disease

On June 19 World Sickle Cell Disease Awareness Day was celebrated. The date was created to broaden the debate on the condition, considered the most common hereditary dysfunction in Brazil. With low life expectancy and predominance among African-American populations. Even so, the condition is still little known in the country. This is the result of the unprecedented survey “Brazilian perception of sickle cell disease” conducted by IBOPE Inteligência in May 2020. The survey interviewed 2.000 connected Brazilians, including men and women, aged 16 and over. According to the Ministry of Health, 7 million people suffer from the disease. Each year, 3.500 new cases are detected.

The clinical manifestations of the disease occur from the first year of life and the characteristics are complex. It affects almost all organs with symptoms such as chronic pain, infections and jaundice. However, sickle cell disease can be easily diagnosed at birth, by means Neonatal heel prick, or by electrophoresis laboratory test of hemoglobin, in which an abnormal percentage of hemoglobin S is detected. According to the National Neonatal Screening Program of the Ministry of Health (PNTN / MS), in 2019, 1,214 cases of sickle cell disease and 61,021 with hemoglobin S (sickle cell trait) were diagnosed. Studies show that, if they do not receive due treatment in a timely manner, only 20% of these children will reach the age of five.

The disease is recognized as a serious worldwide public health problem, with a great impact on the morbidity and mortality of the affected population. It can lead to a significant reduction in quality of life, with frequent hospitalizations, pains that are difficult to control, changes in kidney, lung and eye function, recurrent infections, neurological problems, iron overload in the organs and a reduced survival compared to population without the disease. Invisibility marked the history of the disease on the American continent. Just remember that the first report of the disease only occurred in 1910 – two centuries after the arrival of the first carriers of the S gene on that continent. 110 years after the description of that first case, it is worth remembering the importance of continuing with the construction, within the scope of the Unified Health System (SUS), of an effective public policy for the reception of individuals affected by Sickle Cell Disease. People with the sickle cell trait must know their genetic heritage and receive adequate guidance. In this sense, health professionals have an important role in dispelling myths or omissions and avoiding approaches that may lead to stigmatization, the arbitrary creation of a negative social identity.

International research evaluates impact of the disease on patients lives

An international survey conducted in November 2019, with 2,145 sickle cell disease patients in 16 countries, including 260 Brazilians, assessed the impact of the disease on these peoples lives. The study revealed that more than 90% of respondents had at least one pain crisis in the last 12 months and 39% had five or more crises during the same period. Research indicates that the number of pain crises is also related to the mortality rate, that is, the more crises the patient has, the greater the risk of death, and the lower the life expectancy, which is reduced by 20 years when compared to the population normal. Such a condition requires prevention and adequate treatment of these episodes.

Key findings from “The Sickle Cell World Assessment Survey (SWAY)”:

– More than four out of ten patients declare that the disease has a high impact on family or social life and 51% reported that it also negatively affected their school performance.

– Regarding emotional load, patients also state that: 58% feel concerned about the progression and worsening of their disease, 48% feel afraid of dying, 45% feel depressed and 44% helpless and often anxious and nervous.

– On average, patients claim to have lost more than one day of work per week (8.3 hours in 7 days) as a result of their illness.

The acute and chronic symptoms associated with sickle cell disease have a substantial impact on patients daily lives, including emotional and physical well-being, relationships, school and work. In addition, the acute symptoms associated with vaso-occlusive crises (VOCs), occur several times a year, resulting in frequent hospitalizations. Improved disease management would improve the quality of life for patients in these settings, likely leading to improved emotional well-being and a positive economic effect.

Use of crizanlizumab for sickle cell disease in Brazil approved

Patients affected by Sickle Cell Disease suffer from pain crises that, until then, remained without a solution to alleviate this symptom that limits their lives so much. After decades of waiting for news in treatment, patients now have an innovative option that should allow them to resume their routines. The National Health Surveillance Agency (Anvisa) approved the registration of Novartis Adakveo® drug (crizanlizumab), to reduce the frequency of vaso-occlusive crises or pain crises in patients who are 16 years-old or older. Adakveo® is the first registered drug that acts to prevent the obstruction of the vessels that cause the strong symptom. The substance acts on P-selectin, a cell adhesion protein that plays a central role in multicellular interactions. Anvisas priority review proved the importance of this medication for the treatment of the disease.

People with blood disorders cured with CRISPR

The cure for sickle cell disease can be achieved through allogeneic bone marrow transplantation. However, this therapy presents high risks even in selected patients, and should be performed preferably during childhood, with a compatible donor relative. For now, the only treatment available, transplantation, works only in 10% of the patients. But a new technique can become revolutionary. In August 2019, scientists from the United States used, for the first time in the country, a CRISPR genetic editing technique to try to cure a genetic disease in a human being. The case occurred with patient Victoria Gray, a 41-year-old woman who suffered from sickle cell disease.

The treatment carried out a genetic alteration in the patients own bone marrow, correcting the birth problem and causing the organism to gradually produce red blood cells in the correct shape in order to supplant the wrong ones, curing itself from anemia. And it seems that this kick-off worked. When the one-year anniversary of his historic treatment approaches, Gray has just received good news: the plethora of genetically modified cells that doctors have infused into her body clearly seem to alleviate all the complications of her disorder. The genetic editing tool turns off the gene that causes hemoglobin problems.

The researchers who conducted the Gray study warned that it is too early to reach robust conclusions about the safety and effectiveness of the long-term approach. But Grays experience so far, along with two other patients who have received the same treatment for a similar disorder, indicates that the therapy was effective for her and may work for other patients as well, they said. At a meeting of the European Association of Hematology on June 12, Haydar Frangoul, of the Sarah Cannon Research Institute in Nashville, Tennessee, who is Grays physician, and other researchers presented the latest results from his most recent tests on Gray, as well as from two other patients in the study with a condition related to beta Thalassemia. The latter also appears to be benefiting.

The promising results are encouraging other doctors and researchers, who hope that CRISPR can lead to new treatments for so many other diseases. Studies have already used CRISPR to treat cancer and a rare genetic condition that causes blindness. The genetic engineering tool allows scientists to make changes to DNA much more easily than before. Despite the success of treatment with CRISPR, the procedure, since it requires chemotherapy, can have side effects such as infertility. The three patients will have to be followed for the rest of their lives so that doctors can ensure the success of the genetic editing and any adverse effects that may arise.

Sickle cell disease increases risk of severe forms of COVID-19

Sickle cell disease carriers are included in the risk group for developing more serious diseases due to COVID-19. This is because this population is immunosuppressed due to the spleen not functioning, which increases the risk of infections. In addition, respiratory infection by coronavirus can cause reduced blood oxygenation, dehydration and, thus, trigger a painful crisis. There is also a fear that respiratory infection may also lead to acute chest syndrome, which is a serious complication for these patients. Other factors, such as pulmonary hypertension and/or kidney disease, both commonly present in people with sickle cell disease, can severely increase the risk of COVID-19. This syndrome is associated with a high risk of mortality and morbidity, being a frequent complication in individuals with sickle cell disease.