Hemoglobinas anormales en la población neonatal de Costa Rica
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| Format: | Artículo científico |
| Language: | es |
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Universidad de Costa Rica
2008
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| _version_ | 1876426271401967616 |
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| author | Gabriela Abarca |
| author_facet | Gabriela Abarca |
| contents | Hemoglobinas anormales en la población neonatal de Costa Rica Gabriela Abarca Marta Navarrete Rafael Trejos Carlos de Céspedes Manuel Saborío Biología iso Costa Rica hemoglobin S hemoglobin C hemoglobinopathy Abnormal haemoglobins in the newborn human population of Costa Rica. Hemoglobinopathies are hereditary autosomic recessive diseases. A total of 70 943 samples of whole blood collected by heel prick in filter paper (S&S 903) from throughout Costa Rica (October 2005-October 2006) were analyzed to detect variants of hemoglobin by the iso-electric focusing technique. Eight hundred ninety one cases presented some variant, for a frecuency of 1/79. Five cases are homozygous for hemoglobin S (sickle cell disease) and one shows the double heterozygous genotype SC. in this study the S and C variants of hemoglobin, although with some local differences, are widespread all over the country. Thus, the prevention of new cases is important through the testing of hemoglobin in the Costa Rican National Newborn Screening Program, together with a interdisciplinary National Program of Education for the disease and carrier status (AS/AC) for patients, families and medicar personnel. This is the basis for proper genetic counseling, to improve treatment and to reduce morbi-mortality. Rev. Biol. Trop. 56 (3): 995-1001. Epub 2008 September 30 2008 artículo científico 0034-7744 https://www.redalyc.org/articulo.oa?id=44918834002 es http://www.redalyc.org/revista.oa?id=449 Revista de Biología Tropical application/pdf Universidad de Costa Rica Revista de Biología Tropical (Costa Rica) Num.3 Vol.56 |
| format | Artículo científico |
| id | redalyc_44918834002 |
| institution | Redalyc |
| language | es |
| publishDate | 2008 |
| publisher | Universidad de Costa Rica |
| spellingShingle | Hemoglobinas anormales en la población neonatal de Costa Rica Gabriela Abarca Biología iso Costa Rica hemoglobin S hemoglobin C hemoglobinopathy Hemoglobinas anormales en la población neonatal de Costa Rica Gabriela Abarca Marta Navarrete Rafael Trejos Carlos de Céspedes Manuel Saborío Biología iso Costa Rica hemoglobin S hemoglobin C hemoglobinopathy Abnormal haemoglobins in the newborn human population of Costa Rica. Hemoglobinopathies are hereditary autosomic recessive diseases. A total of 70 943 samples of whole blood collected by heel prick in filter paper (S&S 903) from throughout Costa Rica (October 2005-October 2006) were analyzed to detect variants of hemoglobin by the iso-electric focusing technique. Eight hundred ninety one cases presented some variant, for a frecuency of 1/79. Five cases are homozygous for hemoglobin S (sickle cell disease) and one shows the double heterozygous genotype SC. in this study the S and C variants of hemoglobin, although with some local differences, are widespread all over the country. Thus, the prevention of new cases is important through the testing of hemoglobin in the Costa Rican National Newborn Screening Program, together with a interdisciplinary National Program of Education for the disease and carrier status (AS/AC) for patients, families and medicar personnel. This is the basis for proper genetic counseling, to improve treatment and to reduce morbi-mortality. Rev. Biol. Trop. 56 (3): 995-1001. Epub 2008 September 30 2008 artículo científico 0034-7744 https://www.redalyc.org/articulo.oa?id=44918834002 es http://www.redalyc.org/revista.oa?id=449 Revista de Biología Tropical application/pdf Universidad de Costa Rica Revista de Biología Tropical (Costa Rica) Num.3 Vol.56 |
| title | Hemoglobinas anormales en la población neonatal de Costa Rica |
| topic | Biología iso Costa Rica hemoglobin S hemoglobin C hemoglobinopathy |
| url | https://www.redalyc.org/articulo.oa?id=44918834002 |