Hemoglobinopathies
Mostrando 13-24 de 81 artigos, teses e dissertações.
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13. Prevalence of hemoglobinopathies in school children: the importance of using confirmatory methods
As hemoglobinopatias estão incluídas nas doenças genéticas mais comuns no mundo. No Brasil, as hemoglobinopatias são relatadas pela diversidade racial e o grau de miscigenação. O estudo focou a prevalência das hemoglobinopatias usando métodos laboratoriais convencionais como a eletroforese de hemoglobina em acetato de celulose em pH alcalino e co
Braz. J. Pharm. Sci.. Publicado em: 2015-06
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14. Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals
Background: Brazil has a multiethnic population with a high diversity of hemoglobinopathies. While screenings for beta-globin mutations are far more common, alterations affecting alpha-globin genes are usually more silent and less well known. The aim of this study was to describe the results of a screening program for alpha-globin gene mutations in a repres
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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15. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis
This review discusses hemoglobin D-Punjab, also known as hemoglobin D-Los Angeles, one of the most common hemoglobin variants worldwide. It is derived from a point mutation in the beta-globin gene (HBB: c.364G>C; rs33946267) prevalent in the Punjab region, North-western Indian. Hemoglobin D-Punjab can be inherited in heterozygosis with hemoglobin A causing n
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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16. Evaluation of erythrocyte and reticulocyte parameters as indicative of iron deficiency in patients with anemia of chronic disease
Objective: The aim of this study was to evaluate the effectiveness of mature red cell and reticulocyte parameters to identify three conditions: iron deficiency anemia, anemia of chronic disease, and anemia of chronic disease associated with absolute iron deficiency. Methods: Peripheral blood cells from 117 adult patients with anemia were classified accord-
Rev. Bras. Hematol. Hemoter.. Publicado em: 2015-04
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17. Follow-up of children with hemoglobinopathies diagnosed by the Brazilian Neonatal Screening Program in the State of Pernambuco
OBJECTIVE: To determine the geographical distribution of hemoglobinopathies in the State of Pernambuco, to characterize the children with these diseases and to describe factors associated with their follow-up at the referral center during the period from 2003 to 2010. METHODS: A retrospective, cross-sectional, descriptive study was carried out of 275 m
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-07
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18. National neonatal screening program for hemoglobinopathies: how far have we advanced?
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-07
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19. Scope and efficiency of the newborn screening program in identifying hemoglobin S
Background: In 2001, the Brazilian Ministry of Health added hemoglobinopathies to the National Neonatal Screening Program to be implemented in three steps. In order to meet the proposed goals, it is crucial to establish periodic assessments of this program with the aim of monitoring its implementation. Objective: To assess the scope and the efficiency
Rev. Bras. Hematol. Hemoter.. Publicado em: 2014-01
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20. Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population
Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected patients with microcytic anemia and 28 β-thalassemia carriers were analyzed for hemoglobinopathies by using bioc
Genet. Mol. Biol.. Publicado em: 19/07/2013
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21. Complicações intercorrentes nas gestações e os resultados perinatais das mulheres com hemoglobinopatias acompanhadas no serviço de gestação de alto risco / Complicações intercorrentes nas gestações e os resultados perinatais das mulheres com hemoglobinopatias acompanhadas no serviço de gestação de alto risco / Intercurrent complications during pregnancy and the perinatal outcome of patients with hemoglobinopathies assisted at the High Risk Pregnancy Center / Intercurrent complications during pregnancy and the perinatal outcome of patients with hemoglobinopathies assisted at the High Risk Pregnancy Center
Objetivo: estudar as complicações intercorrentes nas gestações e os resultados perinatais das mulheres com hemoglobinopatias acompanhadas em um serviço de gestação de alto risco. Material e Método: Trata-se de um estudo quantitativo, observacional, transversal, retrospectivo, envolvendo gestantes atendidas no ambulatório para gestantes de risco do N
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 30/03/2012
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22. Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura
The most common hemoglobinopathies, viz, hemoglobins S and C, and α-and β-thalassemias, were investigated through the molecular screening of 116 subjects from the community of Saracura, comprising fugitive African slaves from farms of the municipality of Santarém, in the west of Pará State, Brazilian Amazon. The observed frequency of the HBB*S gene (0.9%
Genetics and Molecular Biology. Publicado em: 05/07/2012
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23. A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures
BACKGROUND: The high frequency of hemoglobinopathies in Brazil constitutes a public health problem and thus educational and preventive measures are necessary to reduce the incidence. Genetic guidance, a modality of genetic counseling, and family screening are measures that can assist in reproductive decisions and mitigate clinical, psychological and social p
Rev. Bras. Hematol. Hemoter.. Publicado em: 2012
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24. Hemoglobinopatias: validação da orientação genética e medidas educativo-preventivas / Genetic counseling, hemoglobinopathies, prevention and control
As hemoglobinopatias são consideradas um problema mundial de saúde pública e medidas educativo-preventivas são essenciais para redução da morbimortalidade. O aconselhamento genético e a triagem familiar podem auxiliar pacientes e familiares a compreenderem os aspectos fundamentais da doença, bem como a tomarem decisões conscientes em relação à re
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 20/12/2011