Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study

Carlos, Aline Menezes; Souza, Renata Andréia Volpe de; Souza, Bruna Maria Bereta de; Pereira, Gilberto de Araújo; Júnior, Sebastião Tostes; Martins, Paulo Roberto Juliano; Moraes‐Souza, Helio

doi:10.1590/1516-3180.2015.00042302

Cited by 7 publications

(7 citation statements)

References 17 publications

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“…. Global and regional birth prevalence a of SCD in Africa [23,[50][51][52][53][54][55][56][57][58][59], Europe [60][61][62][63][64][65][66][67][68][69][70], India [71], the Middle East [39,[72][73][74][75], North America [76][77][78][79], and South America/the Caribbean [80][81][82][83][84][85][86][87][88][89][90][91]. a Within each region, the birth prevalence was estimated using a binomial normal model, which assumed a binomial distribution for the individual studies with a mean value drawn from a normal distribution for a regional/global value.…”

Section: Quantitative Meta-analysis Of Prevalence and Birth Prevalencementioning

confidence: 99%

Systematic Literature Review Shows Gaps in Data on Global Prevalence and Birth Prevalence of Sickle Cell Disease and Sickle Cell Trait: Call for Action to Scale Up and Harmonize Data Collection

Colombatti,

Hegemann,

Medici

et al. 2023

JCM

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Sickle cell disease (SCD) is an inherited monogenic disorder with high prevalence throughout sub-Saharan Africa, the Mediterranean basin, the Middle East, and India. Sources of SCD epidemiology remain scarce and fragmented. A systematic literature review (SLR) to identify peer-reviewed studies on SCD epidemiology was performed, with a search of bibliographic databases and key conference proceedings from 1 January 2010 to 25 March 2022 (congress abstracts after 2018). The SLR followed PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Meta-analyses, using a binomial normal random-effects model, were performed to estimate global and regional prevalence and birth prevalence. Of 1770 journal articles and 468 abstracts screened, 115 publications met the inclusion criteria. Prevalence was highest in Africa (~800/100,000), followed by the Middle East (~200/100,000) and India (~100/100,000), in contrast to ~30/100,000 in Europe. Birth prevalence was highest in Africa (~1000/100,000) and lowest in North America (~50/100,000) and Europe (~30/100,000). This SLR confirmed that sub-Saharan and North-East Africa, India, the Middle East, and the Caribbean islands are global SCD hotspots. Publications including mortality data were sparse, and no conclusions could be drawn about mortality. The identified data were limited due to gaps in the published literature for large parts of the world population; the inconsistent reporting of SCD genotypes, diagnostic criteria, and settings; and a sparsity of peer-reviewed publications from countries with assumed high prevalence. This SLR demonstrated a lack of systematic knowledge and a need to provide uniform data collection on SCD prevalence and mortality.

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Section: Quantitative Meta-analysis Of Prevalence and Birth Prevalencementioning

confidence: 99%

Systematic Literature Review Shows Gaps in Data on Global Prevalence and Birth Prevalence of Sickle Cell Disease and Sickle Cell Trait: Call for Action to Scale Up and Harmonize Data Collection

Colombatti,

Hegemann,

Medici

et al. 2023

JCM

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“…Among the newborns diagnosed, the majority (50.1%) was male and presented with the sickle cell disease in homozygosis (FS). ( 21 , 22 )…”

Section: Discussionmentioning

confidence: 99%

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

Reis

Branco

Conceição

et al. 2018

Einstein (São Paulo)

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ObjectiveTo evaluate the incidence of variant hemoglobins in different health regions.MethodsA descriptive, observational, and cross-sectional study with a quantitative approach based on secondary data in the internal records of the neonatal screening service - Laboratório Central de Saúde Pública do Estado do Piauí (PI, Brazil). The variables related to sex, ethnicity and positive diagnosis for variant hemoglobins were analyzed, with further population distribution of hemoglobinopathies among the macroregions of the state.ResultsA total of 69,180 samples of newborns were analyzed, and 3,747 were diagnosed as hemoglobinopathies, from February 1st, 2014 and December 31st, 2015. Sickle cell trait was the most frequent (4.1%), followed by hemoglobinopathy C in 0.9%; homozygous hemoglobin S cases 0.1% stood out and there were no cases of hemoglobinopathy D in the state. It is also worth noting that the highest frequencies of hemoglobin alterations in Piauí were in males (49.8%) and of parda skin color (38.5%). The region of Piauí presenting the highest incidence of heteroygous variant hemoglobins was Tabuleiros do Alto Parnaíba and Vale do Sambito, due to importance of the region's population Entre Rios.ConclusionNeonatal screening programs are important for screening, orientations regarding health actions and monitoring of families with hemoglobinopathies, in order to reduce morbidity and mortality rates.

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“…Frequencies in Brazil vary greatly depending on the study region and the degree of ethnic mixture of the population [8].…”

Section: Introductionmentioning

confidence: 99%

“…The diagnosis of α-thal is usually reached by evaluating and quantifying fractions of hemoglobin by electrophoresis and by screening for deletions that affect the α-globin gene [4,7,9]. Knowledge and detection of blood donor candidates with these genetic alterations are extremely important for public health since, because of their high incidence and their chronic character with wide clinical variability, they affect the health system as a whole [7][8][9]. Failure to identify α-thal in blood donors, who are usually physically healthy individuals without great comorbidities, may cause misdiagnoses and subsequently lead to incorrect or unnecessary treatment [9,10].…”

Section: Introductionmentioning

confidence: 99%

Causes of microcytic anaemia and evaluation of conventional laboratory parameters in the differentiation of erythrocytic microcytosis in blood donors candidates

Carlos

Souza

et al. 2018

Hematology

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Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study

Cited by 7 publications

References 17 publications

Systematic Literature Review Shows Gaps in Data on Global Prevalence and Birth Prevalence of Sickle Cell Disease and Sickle Cell Trait: Call for Action to Scale Up and Harmonize Data Collection

Systematic Literature Review Shows Gaps in Data on Global Prevalence and Birth Prevalence of Sickle Cell Disease and Sickle Cell Trait: Call for Action to Scale Up and Harmonize Data Collection

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

Causes of microcytic anaemia and evaluation of conventional laboratory parameters in the differentiation of erythrocytic microcytosis in blood donors candidates

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