Triagem familiar ampliada para o gene da hemoglobina S

Bandeira, Flavia Miranda Gomes de Constantino

doi:10.1590/s1516-84842006000200020

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“…A newborn with SCD is generally asymptomatic due to the protective effect of fetal hemoglobin (Hb F) which, during this period of life, represents around 80% of the total hemoglobin. With the replacement of Hb F by an increase in Hb S, clinical manifestations begin to appear, 9 usually starting at the age of six months and lasting throughout the patient's life. 5 , 10 …”

Section: Introductionmentioning

confidence: 99%

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Follow-up of children with hemoglobinopathies diagnosed by the Brazilian Neonatal Screening Program in the State of Pernambuco

Soares

Samico

Araújo

et al. 2014

Revista Brasileira de Hematologia e Hemoterapia

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ObjectiveTo 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.MethodsA retrospective, cross-sectional, descriptive study was carried out of 275 medical records from a total of 302 children with hemoglobinopathies diagnosed by the National Neonatal Screening Program in the State of Pernambuco in the study period. Microsoft Excel was used for data processing and analysis. The chi-square and the Fisher test were used for statistical analysis. The level of significance was set at 5%. Terra View software was used to analyze the geographical distribution of hemoglobinopathies in the State.ResultsA total of 8.9% of the cases of hemoglobinopathies detected in the period were not followed up at the referral center. For the mothers of children with diseases, this was their second or third or more pregnancy in 64.2% and 30.2%, respectively. Regarding the influence of region of residence and regular medical appointments, the study demonstrated that children from the Zona da Mata, Sertão and Vale do São Francisco regions did not attend 45.2%, 50% and 55.6% of their appointments in the outpatient department, respectively.ConclusionsThis study shows that a significant number of children do not begin consultations in the outpatient clinic and even those who started treatment early and who have the most severe form of the disease, usually miss medical appointments.

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Section: Introductionmentioning

confidence: 99%

“…The first years are marked by hemolytic anemia and by vaso-occlusive episodes, dactylitis (inflammation of fingers or toes) or hand-foot syndrome, splenic hypofunction or sequestration, and a higher susceptibility to infections. 9 …”

Section: Introductionmentioning

confidence: 99%