Neonatal screening for hemoglobinopathies: results of a public health system in South Brazil.
Genet Test Mol Biomarkers
; 14(4): 565-9, 2010 Aug.
Article
em En
| MEDLINE
| ID: mdl-20722469
ABSTRACT
AIM:
The aim of this study was to estimate the prevalence of hemoglobinopathies in South Brazil.METHODS:
Samples of dried blood spots collected by heel prick in neonates were evaluated by isoeletric focusing and/or high-performance liquid chromatography techniques. All variants were characterized at the molecular level.RESULTS:
A total of 437,787 samples were evaluated. Among these, 6391 showed an abnormal hemoglobin pattern. These included 48 cases (0.01%) of sickle cell disorders (33 hemoglobin SS [Hb SS], 7 Hb SC, 7 Hb S/beta thalassemia, 1 Hb SD), 1 neonate who was homozygous for beta thalassemia, 6272 (1.4%) newborns who were heterozygous for Hb S, C, or D, and 71 (0.02%) neonates who were carriers for rare hemoglobin variants. Most of these rare variants were identified for the first time in Brazil.CONCLUSIONS:
Comparing these results with those obtained in other Brazilian regions, we observe a highly heterogeneous distribution. This knowledge is useful in healthcare planning and allocation of resources, as well as identifying at-risk couples, which will assist with disease prevention.
Texto completo:
1
Coleções:
01-internacional
Temas:
Aperfeicoar_gestao_SUS
Base de dados:
MEDLINE
Assunto principal:
Triagem Neonatal
/
Hemoglobinopatias
Tipo de estudo:
Diagnostic_studies
/
Evaluation_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limite:
Humans
/
Infant
/
Newborn
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Genet Test Mol Biomarkers
Ano de publicação:
2010
Tipo de documento:
Article