Diagnóstico de hemoglobinopatias em recém-nascidos do Hospital de Base de São José do Rio Preto-SP



Document title: Diagnóstico de hemoglobinopatias em recém-nascidos do Hospital de Base de São José do Rio Preto-SP
Journal: Revista brasileira de hematologia e hemoterapia
Database: PERIÓDICA
System number: 000305889
ISSN: 1516-8484
Authors: 1
2
3
Institutions: 1Universidade Estadual Paulista "Julio de Mesquita Filho", Departamento de Biologia, Sao Jose do Rio Preto, Sao Paulo. Brasil
2Faculdade de Medicina de Sao Jose do Rio Preto, Servico de Genetica, Sao Jose do Rio Preto, Sao Paulo. Brasil
3Hospital de Base de Sao Jose do Rio Preto, Ambulatorio de Hematologia Pediábtrica, Sao Jose do Rio Preto, Sao Paulo. Brasil
Year:
Season: Oct-Dic
Volumen: 24
Number: 4
Pages: 302-305
Country: Brasil
Language: Portugués
Document type: Correspondencia
Approach: Descriptivo
English abstract The neonatal period is considered the most effective for the screening of hemoglobinopathies. This allows prophylaxis and prevention, improving the patient's survival and guidance of parents and heterozygote carriers. The present work aims at the early detection of abnormal hemoglobins, the establishment of standard analysis and to examine the viability of the prevention program. Blood samples were collected by heel stick and from blood cord of children born in the Hospital de Base São José do Rio Preto, from April 1998 to November 1999. Electrophoresis and cytological, biochemical, cromatographic analyses were made for abnormal hemoglobin characterization. A total of 1,478 neonatal blood samples were analyzed in which 14.62% presented with hemoglobins alterations: 3.32% had Hb S; 0.61% had Hb C; 7.44% were suggestive of alpha thalassemia; 1.55% were suggestive of beta thalassemia, and 1.70% had alpha/beta thalassemia interactions. The samples collected from the blood cord showed better results in all analyses while the blood samples collected by heel stick on filter paper, were applicable to only specific methodologies. The routine laboratory methods allowed identification of the thalassemic and variant forms, and isoelectric focusing presented sensitivity only for variant identification in this age range. The suspected cases were reassessed after six months, which permitted genetic counseling of their family members and clinic attendance. A multidisciplinary approach in programs of this kind is fundamental for its success
Disciplines: Medicina
Keyword: Diagnóstico,
Hematología,
Pediatría,
Hemoglobinopatías,
Tamizaje neonatal,
Enfoque isoeléctrico
Keyword: Medicine,
Diagnosis,
Hematology,
Pediatrics,
Hemoglobinopathies,
Neonatal screening,
Isoelectric focusing
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