Chronic diseases can generate the development of physical, social and emotional problems, due to the organic dysfunctions of the underlying disease. SCD, in this scenario, also exhibits such characteristics. These complications can appear during their natural course, interfering directly in quality of life and leading to a decrease in life expectancy in this population.15
The sample investigated in the present study was comprised, in most of the cases, by women, by patients considered to be of a brown colour, of the SS genotype, having diagnosed SCD late (after five years) for the most part. Only 27.43% had been diagnosed at birth, well below expected. A study conducted in Cameroon, a country with worse socioeconomic conditions than Brazil, showed a median age at diagnosis of 4 years of life, also below that recommended by the CDC.16 Belgium implemented the screening test for hemoglobinopathies in 1994, as well as one more database of national case registers in 2008, and already reaps fruits, with a mean age at diagnosis of 0.7 years, with an impact on the morbimortality of the disease.17 It has been demonstrated that the early diagnosis of SCD, together with the capacity of a multiprofessional team and the participation of the family and the community, plays a central role in reducing complications, as well as prolonging the life span of carriers.18
In Brazil, in 2001, the National Neonatal Screening Program was instituted. The hemoglobinopathies test is performed as part of the neonatal screening test (foot prick test), based on Order No. 822/01 of the Brazilian Ministry of Health, for the early diagnosis of the pathology.19 Thus, the results presented in this study reveal a certain fragility of the coverage of this screening test in our country, especially in the interior of the state, where 80% of the sample patients reside.
The mean low age for a chronic disease, 26 years, may reflect a reduced life expectancy for this group of people. It should be noted that the Human Development Index (HDI) for the state of Maranhão is the second lowest in Brazil (0.639)—which may also explain the lack of access to diagnostic tests and hospitals, which may influence the life expectancy of these patients. The median age of death for patients with SCD was 26.5 years in State of Bahia, 31.5 in State of Rio de Janeiro, and 30.0 in State of São Paulo. The current situation in Maranhão is comparable to that of Brazil in 1996, when the median age of death was 18.5 years.20
Considering that painful seizures begin as early as childhood and, as found in this study, are the most prevalent complications in this population, these young people learn to deal early with the disease and the limitations imposed by it. In the case of young people with SCD, hospitalisations limit their satisfactory school development, making them also stigmatised for being sick and absent.21 In addition, SCD may create limitations on the practice of sports. For all these reasons, it is perceived that it is necessary to maintain the support of a multidisciplinary team with psychological and social support throughout the school life of this population. However, in this study, school delay can be inferred, and partly explained, by conditions of discrimination and lack of knowledge regarding the disease, and also by school absenteeism during hospitalisations for treatment of complications. Almost half of the patients did not reach the minimum of eight years of schooling, which is considered the minimum suggested by the Brazilian Federal Constitution.
The impact of clinical conditions on the professional life of the patients evaluated was evident in this study from the low income of the ill. This exposes them to a situation of social vulnerability. A large proportion of the population studied (69%) reported monthly incomes of up to two minimum wages. The occurrence of frequent hospital admissions to manage complications, such as painful crises and the presence of osteodegenerative alterations, creates problems for such patients to remain in paid work with a formal contract; this is evidence of the presence of multiple factors that make it difficult to perform activities that generate income. One study carried out in the United Kingdom, with a different socioeconomic situation, also showed the professional difficulties and lack of job stability generated by the limitations imposed by SCD.22
Another aspect that represents negative impact, leading to sadness and social isolation, is the prejudice and discrimination suffered by such patients. As verified in this study, patients with SCD were impaired, both in physical and mental components. This reality constitutes a deeply disturbing picture for most people with SCD, since this impairs their self-esteem, leading to the construction and perception of a negative self-image. 21
The medians of the summaries of the physical and mental components on the SF–36 questionnaire among all interviewees (48.19 and 68.00, respectively) revealed that the physical impairment is more pronounced than the psychological. A similar study carried out in Cameroon in 2017 showed means of 47.3 and 41.0 for the physical and mental components, respectively, suggesting worse values in the latter, a finding different from that of the present research study; perhaps this could be explained by the unstable political and social situation in that country.16 Another study, in Saudi Arabia, revealed even lower values than the Cameroonian study, probably because the SF–36 was even applied with patients during painful episodes.23
The domain of physical aspects, one of the items of the physical component of the SF–36, is composed of four questions (related to problems with work or some daily activity due to physical health).11 Concerning question four of that domain, which refers to problems with a regular daily task as a consequence of physical health, it was observed that a large majority of the population had decreased the amount of time spent on work, performing fewer tasks than they would like, and limiting their type of work or their chores, as well as referring to difficulties related to do their work or other occupations. Thus, this group of patients presented momentary incapacity for the performance of their activities, whether job-related or not, a fact that deserves attention—since they are of productive age for society.
Pain, and especially chronic pain, is now considered an important public health problem, with high prevalence in the adult population, being one of the main causes of temporary or permanent incapacity to work. Studies have shown that pain is the most persistent symptom reported in primary health care services, and is frequently accompanied by symptoms of depression and anxiety.24 The results of this study show a negative correlation between quality of life of patients with SCD and pain (whether acute or chronic), i.e., the greater the intensity and symptoms, the worse is the quality of life of individuals. This was perceived in both the physical and mental domains. This deterioration is aggravated in proportion to the number of annual pain crises. Adequate control of this symptom was related to the lower rates of blood transfusions and lower frequency of hospital admissions in a year. It is important to note that a considerable variability in the frequency of painful crises between patients can be observed, depending on inherited sub-phenotypes. It has been demonstrated that haplotype GCH1, related to the nitric oxide metabolism, confers susceptibility to pain by altering endothelial function in patients with SCD.25
One aspect to be highlighted is that even in this high prevalence complication, the use of opioids, drugs indicated for the management of moderate or severe pain attacks by the WHO, occurs in just a little more than 50% of the cases. Several factors may explain this moderate use of opioids in patients with SCD.26
Opioids are drugs that can improve the quality of life of people with chronic pain, but which are mistakenly viewed with reservations by doctors and patients. Opiophobia is the fear of using or prescribing opioid drugs. In most cases, the phobia takes root through the myths about opium derivatives, associated with ignorance about their systemic effects. It has also been pointed out that the fear of using this type of analgesia may be related to a belief in the direct association of its prescription with the evolution of the disease or with the imminence of death.27,28
In addition, many health professionals fear that when prescribing such drugs, the patient will become chemically dependent. It is known, however, that when prescribing sub-doses of analgesics it predisposes patients to adopt a “drug seeker” behaviour, due to the fear of developing dependence. In this behaviour, the demand for the drug is driven by the fear of feeling pain and not having the medicine at their disposal.27 Evaluation of pain is subjective, and requires the patient’s self-report. Often the health professional may tend not to rely on the description of the symptoms by the patient, associating such complaints with a possible psychological dependence. Despite the concern of health professionals, the percentage of psychological dependence in patients with sickle cell disease is only 1 to 3%.26
The appropriate management of episodes of pain attacks requires continual specialised training. It is important for the chronic patient pain approach to involve a multidisciplinary team to monitor the patient continuously. This prevents each professional from providing a different service, which would result in uneven health care, without standardisation. Ensuring appropriate access to the drug improves the patient’s relationship with the health care team and provides care based on the case history of each individual.29
Hydroxyurea (HU) is the only medication approved in Brazil for the prevention of pain crises, and its use is the best way to control complications.30 It is known that HU has multiple effects on the erythrocytic lineage, promoting the elevation of HbF in 60% of the persons treated and increasing the haemoglobin level and the mean corpuscular volume, as well as reducing the number of reticulocytes. People who use it have half the seizures they had before the medication, and there is a decrease in the need for blood transfusions. Decreasing the frequency of seizures, patients require fewer hospitalisations, improving quality of life and lessening the overall cost of treatment.31 It was observed in this study that only 42.47% of the patients used the drug, a percentage well below than expected, considering that more than 80% of the respondents had a history of pain crises. The explanation for this fact is that despite its availability through the Brazilian Unified Health System at no cost, the drug is not stored in the pharmacy of the referral blood bank; and it is up to the user to go to the State Pharmacy for Specialised Medicines in another neighbourhood, to apply, and receive a response after 15 days, forcing them to increase the amount of travel to the capital of the State, a fact that can delay or render unfeasible the onset of medication. Another stalemate would be the very resistance of prescribing physicians to prescribe medication and not being able to closely control the adverse effects thereof in patients residing in the interior of the state.
A Jamaican study involving 383 people with SCD with a mean age of 31 years andfollow-up at three years revealed that 66% were using HU with a mean dose of 21.5mg / kg / day. It has been demonstrated that organ damage and premature death still occur in spite of the use of HU, but that a suitable dose, preferably an increase to the maximum tolerated dose, is important, in order to achieve the desired effect32. It is noteworthy that this study used a mean dose lower than the present study.
One limitation of this cross-sectional study is that the chronic complications were reported by the patients, depending exclusively on the interviewee’s memory—which may cause bias due to forgetfulness or even lack of knowledge about their complications. It is also worth noting that only one treatment centre was studied, with its own economic and social realities, and may be different from other economic situation, even within Brazil itself.
To date, there is no specific instrument to evaluate the quality of life of people with SCD among adults, but some generic instruments do serve this purpose. Further research is needed in order to increase the understanding of the impact of quality of life among adults with SCD. The quantification of QOL has a strategic function for the development and re-adaptation of clinical protocols, operational planning of health services, allocation of resources, and development, adaptation and strengthening of public health policies, especially in regions of high prevalence of the disease, such as the state of Maranhão - Brazil.