Incidence of variant hemoglobins in newborns attended by a public health laboratory

Reis, Flávia Mylla de Sousa; Branco, Renata Rodrigues de Oliveira Castelo; Conceição, Amanda Mota; Trajano, Letícia Paula Benvindo; Vieira, José Felipe Pinheiro do Nascimento; Ferreira, Paula M. T.; Araújo, Éverton José Ferreira de

doi:10.1590/s1679-45082018ao4150

Cited by 6 publications

(7 citation statements)

References 17 publications

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“…The incidence of live births with hemoglobinopathies detected by the PNTN varied widely among Brazilian states, with Hb S being the most frequent of the Hb variants. (15)(16)(17)(18) The highest incidence rates of NB with SCD occur in states with a higher concentration of Afro-descendants, such as Bahia. In the state of Mato Grosso do Sul, the incidence of SCD and sickle cell trait was 1:8,300 and 1:70, respectively.…”

Section: ❚ Resultsmentioning

confidence: 99%

Incidence of hemoglobinopathies and spatialization of newborns with sickle cell trait in Mato Grosso do Sul, Brazil

Cândido-Bacani

Grilo

Ramos

et al. 2022

Einstein (São Paulo)

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Objective: To evaluate the incidence of variant hemoglobins of newborn samples from the Neonatal Screening Center in the state of Mato Grosso do Sul, Brazil, and to analyze the distribution and spatial autocorrelation of newborns with sickle cell trait. Methods: Samples from 35,858 newborns screened by the Neonatal Screening Center. The samples with inconclusive diagnosis were submitted to electrophoretic, chromatographic, cytological and molecular analyses. The spatial distribution analysis of newborns with sickle cell trait was performed by spatial autocorrelation. Results: A total of 919 newborns showed an abnormal hemoglobin profile; in that, ten genotypes had significant clinical impacts identified. Among the asymptomatic newborns, the sickle cell trait was the most frequent (incidence of 1.885 cases/100 newborns). The highest incidence rates were registered in the municipalities of Terenos, Figueirão, Corguinho and Selvíria. There was positive spatial autocorrelation between the proportion of declared individuals of black race/ color and the incidence of newborns with sickle cell trait. Conclusion: The early diagnosis by neonatal screening and laboratory tests was very important to identify abnormal hemoglobin profiles and guide the spatial autocorrelation analysis of sickle cell trait newborns in Mato Grosso do Sul, serving as a support to anticipate health measures aimed to discuss efficient therapeutic behaviors and effective planning of municipalities with the greatest need for care, monitoring and orientations for affected families.

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Section: ❚ Resultsmentioning

confidence: 99%

Incidence of hemoglobinopathies and spatialization of newborns with sickle cell trait in Mato Grosso do Sul, Brazil

Cândido-Bacani

Grilo

Ramos

et al. 2022

Einstein (São Paulo)

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“…In the group of the patients older than 18 years of age who were analyzed with EHS and SSL, those with a history of priapism had significantly worse erections: EHS scored 2 [1][2][3] in comparison to individuals with PE (EHS=4 [3][4]; p=0.01) (Figure 3). Also, the patients who had priapism were less satisfied with their sexual life than the individuals with PE (SSL=2 [1][2]; versus 3 [3-5]; p=0.02) (Figure 4).…”

Section: ❚ Resultsmentioning

confidence: 99%

“…A projeção estatística foi de que 71,1% desses sujeitos teriam pelo menos um episódio de priapismo ao longo da vida. Pacientes adultos com episódios de priapismo (10/23) apresentaram função erétil significativamente pior Escala de Rigidez de Ereção de 2 [1][2][3]; p=0,01 e estavam menos satisfeitos com a vida sexual 3 [3][4][5]; p=0,02. Conclusão: O priapismo manifesta-se desde a infância, e episódios graves estão associados a dano cavernoso, prejuízo na qualidade da ereção e menor satisfação sexual.…”

Section: ❚ Resumounclassified

“…Descritores: Anemia falciforme; Priapismo/epidemiologia; Disfunção erétil; Sexualidade ❚ INTRODUCTION "Sickle cell disease" (SCD) is a generic term that encompasses a group of hereditary hemolytic anemia characterized by structural changes in the beta hemoglobin's chain, leading to the production of abnormal hemoglobin, which is called HbS. (1,2) This disease is recognized by the World Health Organization (WHO) as a serious global public health problem, with great impact on the morbidity and mortality of the affected population. (3) It affects mainly Afrodescendants, and its pathophysiology is related to the occurrence of vaso-occlusive episodes, in small vessels, leading to the signs and symptoms of the disease.…”

Section: ❚ Resumomentioning

confidence: 99%

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Prevalence of priapism in individuals with sickle cell disease and implications on male sexual function

Alvaia¹,

Maia²,

Nelli³

et al. 2020

Einstein (São Paulo)

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Objective: To evaluate epidemiological aspects of priapism in patients with sickle cell disease, and these aspects impact on adult sexual function. Methods: This was a cross-sectional study including individuals with sickle cell disease who were evaluated at a reference center for sickle cell. Participants completed a structured questionnaire about their sociodemographic characteristics and priapism events. Sexual function was assessed using validated two instruments, the Erection Hardness Score and one about the sex life satisfaction. Results: Sixty-four individuals with median aged of 12 (7 to 28) years were interviewed. The prevalence of priapism was 35.9% (23/64). The earliest priapism episode occurred at 2 years of age and the latest at 42 years. The statistical projection was that 71.1% of individuals of the study would have at least one episode of priapism throughout life. Patients with episodes of priapism (10/23) had significantly worse erectile function Erection Hardness Score of 2 [1-3]; p=0.01 and were less satisfied with sexual life 3 [3-5]; p=0.02. Conclusion: Priapism is usually present in childhood, and severe episodes are associated with cavernous damage, impairment in the quality of the erection, and lower sexual satisfaction.

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“…Sickle cell disease is an inherited blood condition that is most common among people of African, Arabian, and Indian origin [ 1 ] that is caused by a single nucleotide mutation that substitutes glutamic acid for valine in the sixth position of the β-globin gene [ 2 ]. During hypoxic conditions, the red blood cell becomes sickled, and the resulting change in structure restricts circulation causing obstruction of the blood flow within the capillaries and early destruction of the cell [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

Clinical Profiles of Children With Sickle Cell Anaemia Presenting With Acute Clinical Events: A Single-Center Study

Singh¹,

Bokade²,

Tirpude³

et al. 2023

Cureus

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Background: Sickle cell disease is a common genetic disorder characterised by chronic haemolytic anaemia and vaso-occlusive crisis. Sickle cell anaemia (SCA) has both short-term effects in the form of acute clinical events and long-term repercussions seen with chronic multiorgan involvement. It is associated with significant morbidity and mortality. In India, the disease is largely undocumented. Thus, there is an urgent need to highlight the features of the disease so that locally appropriate models of care may be implemented. Objective: This study aims to evaluate acute clinical events in SCA and to provide data that may help to reduce the rate of morbidity and mortality associated with this disease by early interventions. Materials and methods: A cross-sectional observational study was conducted between November 2020 and May 2022 at Indira Gandhi Government Medical College and Hospital, Nagpur, Central India. The inclusion criteria included previously diagnosed patients of SCA (homozygous sickle cell disease) on high-performance liquid chromatography (HPLC) between the age groups of six months and 12 years, presenting with acute clinical events. The exclusion criteria included patients younger than six months and older than 12 years of age, and all patients with other haemoglobinopathies and sickle cell trait. The study was approved by the Institutional Ethical Committee. All the data was entered into a well-designed Microsoft Office Excel spreadsheet (v 2019, Microsoft, Washington, USA). All the clinical, biochemical, and haematological data were tabulated and analysed. Results: A total of 100 children with sickle cell disease diagnosed by HPLC were enrolled during the study period. About 215 acute clinical events among the 100 cases were recorded, for which they were admitted to the paediatric ward or PICU. The majority (35%, n=35) were seen in the age group of six to nine years (school-going age). About 52% were male and 48% were female (male-to-female ratio= 1.08:1). Pain was the most common symptom. The highest incidence of 36.75% (n=79) was seen with acute painful crises and was the most common indication of hospitalisation, followed by acute febrile illness (AFI) (34.42%, n=74), aplastic crisis (10.23%, n=22), splenic sequestration crisis (9.77%, n=21), hepatobiliary involvement (3.72%, n=8), acute chest syndrome and haemolytic crisis (each 1.86%, n=4), and stroke (1.40%, n=3). In cases of having foetal haemoglobin (HbF) ≥20%, the incidence of acute painful crisis (p=0.0001), hand-foot syndrome (p=0.047), aplastic crisis (p=0.033), splenic sequestration crisis (p=0.039), and AFI (p=0.035) was low as compared to cases having HbF ≤20% which was statistically significant. The incidence of acute painful crisis, hand-foot syndrome, and an aplastic crisis was significantly low in patients receiving hydroxyurea therapy as compared to patients who were not on hydroxyurea. Out of 100 cases, four died during the study period, three died because of splenic sequestration crisis...

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Incidence of variant hemoglobins in newborns attended by a public health laboratory

Cited by 6 publications

References 17 publications

Incidence of hemoglobinopathies and spatialization of newborns with sickle cell trait in Mato Grosso do Sul, Brazil

Incidence of hemoglobinopathies and spatialization of newborns with sickle cell trait in Mato Grosso do Sul, Brazil

Prevalence of priapism in individuals with sickle cell disease and implications on male sexual function

Clinical Profiles of Children With Sickle Cell Anaemia Presenting With Acute Clinical Events: A Single-Center Study

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