Guidelines on neonatal screening and painful vaso-occlusive crisis in sickle cell disease: Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular

Braga, Josefina Aparecida Pellegrini; Veríssimo, Mônica Pinheiro de Almeida; Saad, Sara Teresinha Olalla; Cançado, Rodolfo Delfini; Loggetto, Sandra Regina

doi:10.1016/j.bjhh.2016.04.001

Cited by 6 publications

(6 citation statements)

References 69 publications

(115 reference statements)

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“…The prevalence of β S allele in Brazil varies from 1.2% to 10.9%, depending on the region, whereas the prevalence of β C allele is reported between 0.15% and 7.4%. [27][28][29] The number of all-age individuals affected by SCA globally is currently unknown and cannot be estimated reliably owing to the paucity of epidemiological data, in particular mortality data, in areas of high prevalence.…”

Section: [H1] Introductionmentioning

confidence: 99%

Sickle cell disease

Kato

Piel

Reid

et al. 2018

Nat Rev Dis Primers

937

929

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Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB, which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 and 400,000 neonates globally each year, the majority in sub-Saharan Africa. Haemoglobin molecules that include mutant sickle β-globin subunits can polymerize; erythrocytes that contain mostly haemoglobin polymers assume a sickled form and are prone to haemolysis. Other pathophysiological mechanisms that contribute to the SCD phenotype are vaso-occlusion and activation of the immune system. SCD is characterized by a remarkable phenotypic complexity. Common acute complications are acute pain events, acute chest syndrome and stroke; chronic complications (including chronic kidney disease) can damage all organs. Hydroxycarbamide, blood transfusions and haematopoietic stem cell transplantation can reduce the severity of the disease. Early diagnosis is crucial to improve survival, and universal newborn screening programmes have been implemented in some countries but are challenging in low-income, high-burden settings.

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Section: [H1] Introductionmentioning

confidence: 99%

Sickle cell disease

Kato

Piel

Reid

et al. 2018

Nat Rev Dis Primers

937

929

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“…In Brazil in 2016, 1,071 newborn babies had sickle cell disease (SCD) and >60,000 were heterozygous for the β S allele. There are an estimated 30,000 individuals with SCD in the whole country [4][5][6], and the prevalence of heterozygotes for HbS in the North and Northeast regions is higher at about 6 to 10%, while in the South and Southeast, the prevalence is lower at 2 to 3% [7,8].…”

Section: Introductionmentioning

confidence: 99%

Sickle Cell Anemia Patients Display an Intricate Cellular and Serum Biomarker Network Highlighted by TCD4+CD69+ Lymphocytes, IL-17/MIP-1β, IL-12/VEGF, and IL-10/IP-10 Axis

Garcia

Júnior

Soares

et al. 2020

Journal of Immunology Research

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Background. Sickle cell anemia (SCA) is associated with a chronic proinflammatory state characterized by elevated leukocyte count, mortality from severe recurrent infections, and subsequent vasoocclusive complications with leukocyte adhesion to the endothelium and increased plasma levels of inflammatory cytokines. The immune system has a close connection with morbidity in SCA, but further studies are needed to uncover the involvement of innate and adaptive immunities in modulating the SCA physiopathology. We performed measurements of the frequency of innate and adaptive immunity cells, cytokines, chemokines, and growth factors and immunophenotyping of Toll-like receptor and adhesion molecule expression in the blood of SCA patients and healthy donors to evaluate the different profiles of these biomarkers, the relationship among them, and their correlation to laboratory records and death risk. Material and Methods. Immunophenotyping of cells, Toll-like receptors, and adhesion molecules were performed from peripheral blood samples of SCA patients and healthy donors by flow cytometry and cytokine/chemokine/growth factor measurement by the Luminex technique performed from the serum of the same subjects. Results. Cells of adaptive immunity such as IL-12, IL-17, and IL-10 cytokines; IL-8, IP-10, MIP-1α, MIP-1β, and RANTES chemokines; and VEGF, FGF-basic, and GM-CSF growth factors were higher in SCA patients than healthy donors regardless of any laboratorial and clinical condition. However, high death risk appears to have relevant biomarkers. Conclusion. In the SCA pathophysiology at steady state, there is a broad immunological biomarker crosstalk highlighted by TCD4+CD69+ lymphocytes, IL-12 and IL-17 inflammatory and IL-10 regulatory cytokines, MIP-1α, MIP-1β, and IP-10 chemokines, and VEGF growth factor. High expression of TLR2 in monocytes and VLA-4 in TCD8+ lymphocytes and high levels of MIP-1β and RANTES appear to be relevant in high death risk conditions. The high reticulocytosis and high death risk conditions present common correlations, and there seems to be a balance by the Th2 profile.

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“…In 2018, the incidence of SCD was 1 in every 1400 newborns in the state of Maranhão, with the same incidence as in the states of Pernambuco, Minas Gerais, and Goiás, second only to Bahia, with 1 in every 650 newborns, and to Rio de Janeiro, with 1 in every 1300 newborns. 5,6 The disease is chronic, it has treatment, but it represents a high degree of suffering for the patient, from a medical, genetic and psychosocial point of view, being associated with several hospitalizations that compromise the quality of life (QoL) and may cause disability. 4 The most frequent clinical picture of SCD is the pain of occlusive vessel processes, 5 which is largely responsible for the search for emergency services among patients.…”

Section: Introductionmentioning

confidence: 99%

“…4 The most frequent clinical picture of SCD is the pain of occlusive vessel processes, 5 which is largely responsible for the search for emergency services among patients. 6 Nevertheless, it is shown that in most of the episodes there is no search for medical treatment, and 90% of these are treated at home. 7,8 Pain in children is underestimated and undertreated as the assessment depends on the cognitive development of the child being tested, clinical context, and pain typology.…”

Section: Introductionmentioning

confidence: 99%

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<p>Self-Report for Assessment of Pain and Quality of Life in Children with Sickle Cell Anemia in a Developing Country</p>

Cunha

Rodrigues

et al. 2020

JPR

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Purpose: The specific assessment of pain and quality of life in children with sickle cell anemia (SCA) is still the subject of few studies and is traditionally evaluated through perception of their parents or guardians. Thus, this study aimed to evaluate pain, its characteristics, and impact on the quality of life (QoL) in children diagnosed with SCA, valuing their self-report. Patients and Methods: This study was conducted on hematology and hemotherapy outpatient clinic in São Luís, Brazil, with children between 7 years and 12 years with SCA, of both genders. The instruments used were Numeric Pain Rating Scale, Faces Pain Scale and Autoquestionnaire Qualité de Vie Enfante Imagé (AUQEI) for the assessment of pain and QoL from the children's self-report. The association between pain intensity and QoL was verified through the Chi-square test and the relationship between pain and the domains of AUQEI was verified through Pearson's correlation, using Stata 10.0 ®. Results: The sample consisted of 104 children with a mean age of 8.97 years, 51.9% were male and 94.2% non-white. Pain was characterized predominately moderate to strong, stabbing (37.5%) and burning (31.7%), with greater frequency in the limbs, and reported simultaneously in two or more locations. The average pain score was 9.26 at the worst time and in the general context was 6.02. As a result of pain, 93.3% reported school absence, averaging 8.57 days of absence; 63.5% had sleep disturbance and 86.5% failed to perform your daily activities. QoL results were negative in 48.08% and 56.25% of these had severe pain. About 74% of children with positive QoL had mild pain. Conclusion: Pain in children with SCA has a negative impact on their QoL based on their point of view, affecting their daily life. These findings highlight the importance of valuing children's self-report of the disease, especially in a restricted resource scenario.

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Guidelines on neonatal screening and painful vaso-occlusive crisis in sickle cell disease: Associação Brasileira de Hematologia, Hemoterapia e Terapia Celular

Cited by 6 publications

References 69 publications

Sickle cell disease

Sickle cell disease

Sickle Cell Anemia Patients Display an Intricate Cellular and Serum Biomarker Network Highlighted by TCD4+CD69+ Lymphocytes, IL-17/MIP-1β, IL-12/VEGF, and IL-10/IP-10 Axis

<p>Self-Report for Assessment of Pain and Quality of Life in Children with Sickle Cell Anemia in a Developing Country</p>

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