Prevenção de hemoglobinopatias a partir do estudo em gestantes

Viana-Baracioli, Lígia M. S.; Bonini-Domingos, Cláudia Regina; Pagliusi, Regina Alexandre; Naoum, Paulo Cesar

doi:10.1590/s1516-84842001000100005

Cited by 20 publications

(34 citation statements)

References 13 publications

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“…This is due to the absence of clinical manifestations and the mild laboratory abnormalities, 3,4 or due to diagnostic failures mainly because of technical ineptitude and low concentrations of Hb H, as is the case of the interaction of α-thal and β-thal. 24 However, in this study, similar to others, 10,20,27,30 cases suggestive of α-thal were more common than were cases of heterozygous Hb S, which is a characteristic of Afro-descendants, hence demonstrating the efficiency of the methods used here.…”

Section: Discussionsupporting

confidence: 87%

“…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: 91%

“…10,29 In the current study, 21.31% of the patients with Hb S also inherited the α-thal gene and therefore the frequency of α-thal in the Brazilian population is relatively high, with even higher prevalence among Afro-descendants. 20,24,27 Hb S is considered to be the most prevalent hereditary redblood cell disorder in the world. It causes severe consequences including major hematological changes.…”

Section: Discussionmentioning

confidence: 99%

“…19,25,31 The possible explanations for this great variability in the frequency of hemoglobinopathies are the wide ethnic diversity of the populations studied and the different diagnostic methodologies used. 3,7,10,20,32 Application of more than one method in the initial screening enhances the specificity and proves to be useful for detecting patients with hemoglobinopathies. The screening methods are easy to perform, inexpensive and reproducible in routine practice in laboratories.…”

Section: Discussionmentioning

confidence: 99%

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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: Discussionsupporting

confidence: 87%

Section: Discussionmentioning

confidence: 91%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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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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“…In a study developed in Jamaica with pregnant women with sickle cell anemia, the researchers found that 57% of pregnancies progressed without complications [18]. For these reasons, preventive actions involving early diagnosis are necessary to minimize injuries in this segment of the population [19,20]. In this study, the preterm labor was 17.06 more prevalent among women with pregnancies with hemoglobinopathies compared to those without hemoglobinopathies.…”

Section: Discussionmentioning

confidence: 74%

Pregnancy complications and perinatal outcomes of women with hemoglobinopathies

Salazar¹,

Ivo²,

Freitas³

et al. 2016

Int Arch Med

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Objective: To estimate the prevalence of gestational complications and perinatal outcomes in women with and without hemoglobinopathies.Method: This is a cross-sectional study with a quantitative approach, performed from 110 medical records of pregnant women who underwent prenatal, childbirth, postpartum and perinatal care in a gynecology and obstetrics service of the University Hospital at the Federal University of Mato Grosso do Sul, Brazil, between 2010 and2011. Results: Gestational complications in women with and without hemoglobinopathies in the variables: obstetric (preterm labor, preeclampsia, ruptured membranes for more than six hours (17.06 times; 12.19 times; 4.27 times respectively); clinical: urinary tract infection, heart failure, severe anemia (2.97 times; 12.6 times; 9.75 times, respectively), and perinatal: cesarean delivery, neonatal infection; the newborn in the neonatal intensive care unit; fetal death, stillbirth (1.57 times; 39.00 times; 12.19 times; 12.9 times; 9.75 times; respectively) were higher in the presence of hemoglobinopathies. Conclusion:The pregnancy outcomes of women with hemoglobinopathies, perinatal and their newborns showed a higher prevalence of complications than women without this change. Pregnancy Complications and Perinatal Outcomes of Women with Hemoglobinopathies ORIGINAL

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Avaliação dos parâmetros bioquímicos e hematológicos associados ao estudo molecular para caracterização da beta-talassemia heterozigótica

Viviani¹

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Prevenção de hemoglobinopatias a partir do estudo em gestantes

Cited by 20 publications

References 13 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

Pregnancy complications and perinatal outcomes of women with hemoglobinopathies

Avaliação dos parâmetros bioquímicos e hematológicos associados ao estudo molecular para caracterização da beta-talassemia heterozigótica

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