Investigação de hemoglobinopatias em sangue de cordão umbilical de recém-nascidos do Hospital de Base de São José do Rio Preto
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Data
2001-04-01
Autores
Ducatti, Ricardo P.
Teixeira, Antonio E.A.
Galão, Heloísa A.
Bonini-Domingos, Claudia R. [UNESP]
Fett-Conte, Agnes C.
Título da Revista
ISSN da Revista
Título de Volume
Editor
Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea
Resumo
As hemoglobinopatias são as doenças genéticas mais freqüentes na população humana. Cerca de 12 a 15% da população é portadora de uma ou mais formas de hemoglobinas anormais, resultando em um grande problema de saúde pública. O diagnóstico neonatal possibilita o tratamento e o aconselhamento genético precoce, incluindo a conscientização dos portadores sobre o risco do nascimento de homozigotos. O objetivo deste trabalho é apresentar os resultados da investigação de hemoglobinopatias em recém-nascidos do Hospital de Base de São José do Rio Preto. O estudo foi realizado em 913 amostras de sangue de cordão umbilical, que foram submetidas a testes eletroforéticos, bioquímicos e citológicos, específicos para análise de hemoglobinas. Foram identificadas 100 (10,95%) amostras com hemoglobinas anormais, das quais 40 (4,38%) com Hb Bart's, sugerindo alfa talassemia, 34 (3,72%) com Hb S, 23 (2,52%) com beta talassemia, duas (0,22%) com Hb C e uma (0,11%) amostra apresentou Hb rápida. A frequência elevada de alterações encontradas evidencia a necessidade da triagem neonatal de hemoglobinopatias que pode resultar em amplos benefícios para os portadores destas patologias e seus familiares.
Hemoglobinopathies are the most frequent genetic diseases in the human population. About 12 to 15% of the population have one or more forms of abnormal hemoglobins, which creates a huge public health problem. The neonatal diagnosis permits early treatment and genetic counselling also makes carriers aware of the risk of homozygote children. The purpose of this study is to present the results of the investigation of hemoglobinopathies in newborn babies in the Hospital de Base, São José do Rio Preto. The study was performed on 913 blood samples taken from umbilical cords, which were submitted to specific electrophoresis, biochemical and cytologic tests for hemoglobin analysis. The results showed one hundred samples (10.95%) had abnormal hemoglobins of which 40 (4.38%) were Hb Bart's suggesting alpha thalassaemia, 34 (3.72%) were Hb S, 23 (2.52%) were Beta thalassaemia, two (0.22%) were Hb C and one (0.11%) was fast hemoglobin. The high rate of abnormal hemoglobins shows the necessity of neonatal screening which can result in great benefits for carriers of these diseases and their relatives.
Hemoglobinopathies are the most frequent genetic diseases in the human population. About 12 to 15% of the population have one or more forms of abnormal hemoglobins, which creates a huge public health problem. The neonatal diagnosis permits early treatment and genetic counselling also makes carriers aware of the risk of homozygote children. The purpose of this study is to present the results of the investigation of hemoglobinopathies in newborn babies in the Hospital de Base, São José do Rio Preto. The study was performed on 913 blood samples taken from umbilical cords, which were submitted to specific electrophoresis, biochemical and cytologic tests for hemoglobin analysis. The results showed one hundred samples (10.95%) had abnormal hemoglobins of which 40 (4.38%) were Hb Bart's suggesting alpha thalassaemia, 34 (3.72%) were Hb S, 23 (2.52%) were Beta thalassaemia, two (0.22%) were Hb C and one (0.11%) was fast hemoglobin. The high rate of abnormal hemoglobins shows the necessity of neonatal screening which can result in great benefits for carriers of these diseases and their relatives.
Descrição
Palavras-chave
Hemoglobinopatias, diagnóstico neonatal, Hemoglobinopathies, neonatal diagnosis
Como citar
Revista Brasileira de Hematologia e Hemoterapia. Associação Brasileira de Hematologia e Hemoterapia e daSociedade Brasileira de Transplante de Medula Óssea, v. 23, n. 1, p. 23-29, 2001.