Hemoglobinas anormales en la población neonatal de Costa Rica
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| Autors: | , , , , |
|---|---|
| Format: | artículo original |
| Estat: | Versión publicada |
| Data de publicació: | 2008 |
| Descripció: | 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 vari-ants of hemoglobin by the iso-electric focusing technique. Eight hundred ninety one cases presented some vari-ant, 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 test-ing 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. |
| Pais: | Portal de Revistas UCR |
| Institution: | Universidad de Costa Rica |
| Repositorio: | Portal de Revistas UCR |
| Idioma: | Español |
| OAI Identifier: | oai:portal.ucr.ac.cr:article/5687 |
| Accés en línia: | https://revistas.ucr.ac.cr/index.php/rbt/article/view/5687 |
| Paraula clau: | Hemoglobinopatías tamizaje neonatal anemia drepanocítica isoelectro-enfoque. Hemoglobina S Hemoglobina C Costa Rica Hemoglobinopathy neonatal screening sickle cell disease iso-electric focusing technique hemoglobin S hemoglobin C |