Investigação de hemoglobinopatias em sangue de cordão umbilical de recém-nascidos do Hospital de Base de São José do Rio Preto

Ducatti, Ricardo P.; Teixeira, Antonio E.A.; Galão, Heloisa Aparecida; Bonini-Domingos, Cláudia Regina; Fett‐Conte, Agnes Cristina

doi:10.1590/s1516-84842001000100004

Cited by 16 publications

(11 citation statements)

References 20 publications

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“…7,18,19 The most common hemoglobinopathy in the region of Uberaba, similar to other studies conducted in Brazilian regions where there is a predominance of Afro-descendants, has been found to be α-thal (1:9.6). 10,20,21 This differs from the states of Rio Grande do Sul and Paraná, where there are fewer Afrodescendants. 13 It is known that the most common genotype of α-thal in the Brazilian population is the -α 3.7 deletion, which is directly related to the black population.…”

Section: Discussionmentioning

confidence: 90%

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

Carlos

Souza

et al. 2015

Sao Paulo Med. J.

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CONTEXT AND OBJECTIVE: Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity among 1,004 newborns, to confirm the guideline of the Brazilian National Neonatal Screening Program. DESIGN AND SETTING: Cross-sectional study conducted in a public referral hospital in the Triângulo Mineiro region, Minas Gerais, Brazil. METHODS: Qualitative assessment of hemoglobin was performed through electrophoresis on cellulose acetate: at alkaline pH to identify the hemoglobin (Hb) profile and at acid pH to differentiate Hb S from Hb D and Hb C from Hb E and others that migrate to similar positions at alkaline pH. Neutral pH was used to detect Hb Bart's identified in alpha thalassemia (α-thal). The elution method after electrophoresis was used to quantitatively assess hemoglobins. RESULTS: There was predominance of α-thal, with 105 cases (10.46%), followed by Hb S with 61 cases (6.08%, comprising 46 Hb AS, 2 Hb SS and 13 Hb S/α-thal), 9 cases (0.9%) of Hb AC and 6 cases (0.6%) suggestive of beta thalassemia (β-thal). The frequency of hemoglobinopathies was significantly higher among Afro-descendants. CONCLUSIONS: These findings corroborated of the National Neonatal Screening Program for diagnosing sickle cell disease and Hb C, Hb D, Hb E and β-thal hemoglobinopathies. RESUMO CONTEXTO E OBJETIVO:As hemoglobinopatias estão entre as alterações genéticas mais comuns e mundialmente difundidas, variando conforme a composição étnica e/ou geográfica. Nosso objetivo foi verificar a incidência de hemoglobinopatias por métodos de triagem laboratorial e sua associação com a etnia em 1.004 recém-nascidos. TIPO DE ESTUDO E LOCAL: Estudo transversal; realizado em um hospital público de referência do Triângulo Mineiro, Minas Gerais, Brasil. MÉTODOS: Avaliação qualitativa das hemoglobinas foi realizada por eletroforese em acetato de celulose: em pH alcalino para identificação do perfil hemoglobínico, em pH ácido para diferenciação das Hb S da Hb D e Hb C da Hb E, e outras que migrem em posições semelhantes em pH alcalino e em pH neutro para detecção de Hb Bart's, identificada na talassemia alfa (α-thal); e avaliação quantitativa das hemoglobinas pelo método de eluição após eletroforese. RESULTADOS: Houve predomínio da α-thal, com 105 (10,46%) casos, seguida da Hb S, com 61 casos (6,08% -46 Hb AS, 2 Hb SS e 13 Hb S/α-thal), 9 casos (0,9%) de Hb AC e 6 (0,6%) sugestivos de betatalassemia (β-thal). A incidência de hemoglobinopatias foi significantemente maior em afrodescendentes. CONCLUSÕES: Esses achados reforçam a importância do Programa Nacional de Triagem Neonatal para o diagnóstico das síndromes falciformes e hemoglobinopatias C, D, E e β-thal e robustecem os dados da literatura sobre a necessidade da pesquisa da α-thal em sangue de cordão (não identificada pelo Programa Nacional) e em pacientes com anemia ...

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Section: Discussionmentioning

confidence: 90%

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

Carlos

Souza

et al. 2015

Sao Paulo Med. J.

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“…As for the State of Sao Paulo, the estimated prevalence was 0.0655% of live births in the period. (14) In the study carried out in Rio de Janeiro, prevalences of 3.96% and 0.06% were obtained for Hb AS and Hb SS, respectively. The paper presented medium relevance because the sample size was significant (between 100,000 and 10,000) and the estimate, using SINASC data, for coverage was approximately 40% of live births during the period.…”

Section: Discussionmentioning

confidence: 95%

Prevalence of sickle cell disease and sickle cell trait in national neonatal screening studies

Lervolino¹,

Baldin²,

Picado³

et al. 2011

Rev. Bras. Hematol. Hemoter.

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Sickle cell anemia is the best known hereditary blood disorder; there are serious complications associated with the condition. Diagnosis and early intervention reduce morbidity and mortality. These benefits have resulted in the widespread use of newborn screening education programs. In Brazil, the National Neonatal Screening Program established by decree 822/01 included sickle cell disease in the list of diseases tested in the so called "heel prick test". Since then, national studies of the results of this program have been periodically published. To review the literature in order to assess the prevalence of sickle cell trait and sickle cell anemia from data of national neonatal screening studies on hemoglobin S (Hb S). A bibliographic review was carried out using the key words: sickle cell anemia & hemoglobinopathies & neonatal screening & Brazil in the Bireme and SciELO databases. Original Brazilian studies presenting data on prevalence of the sickle cell trait (Hb AS) and sickle cell anemia (Hb SS) based on neonatal screening for Hb S were analysed. Twelve original national studies were identified with prevalences varying from 1.1% to 9.8% for the sickle cell trait and from 0.8 to 60 per 100,000 live births for sickle cell disease in different Brazilian regions. Conclusion: Neonatal screening for Hb S is a very useful method to assess the prevalence of sickle cell trait (Hb AS) and sickle cell anemia (Hb SS) in Brazil. There is a heterogeneous distribution of this disease with the highest prevalence in the northeastern region and the lowest prevalence in the south.

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“…10 Diversos estudos realizados têm demonstrado a grande variação na proporção de indivíduos com talassemia alfa no Brasil e no mundo. 10,20,21,[23][24][25][26][27] Esta variação encontrada nas populações estudadas pode ser devido a: (1) real diferença nas populações e (2) uso de técnicas diferentes. Na região de São José do Rio Preto, Castilho et al identificaram, através de técnicas citológicas, uma prevalência maior (16%) de portadores de talassemia alfa em indivíduos com anemia a esclarecer quando comparada com indivíduos sem anemia (4%).…”

Section: Resultsunclassified

Prevalência de talassemias e hemoglobinas variantes em pacientes com anemia não ferropênica

Wagner¹,

Silvestri

Bittar

et al. 2005

Rev. Bras. Hematol. Hemoter.

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Investigação de hemoglobinopatias em sangue de cordão umbilical de recém-nascidos do Hospital de Base de São José do Rio Preto

Cited by 16 publications

References 20 publications

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

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

Prevalence of sickle cell disease and sickle cell trait in national neonatal screening studies

Prevalência de talassemias e hemoglobinas variantes em pacientes com anemia não ferropênica

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