Rastreio neonatal de hemoglobinopatias numa população residente em Portugal.
The primary objective of newborn screening of hemoglobinopathies is the early identification of infants with sickle cell disease, as they are at increased clinical risk. Other goals include the identification of other types of clinically significant hemoglobinopathies and the detection of heterozygo...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Ordem dos Médicos
1996-06-01
|
| Series: | Acta Médica Portuguesa |
| Online Access: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2569 |
| _version_ | 1797996270071054336 |
|---|---|
| author | M J Peres M H Carreiro M C Machado T Seixas I Picanço L Batalha J Lavinha M C Martins |
| author_facet | M J Peres M H Carreiro M C Machado T Seixas I Picanço L Batalha J Lavinha M C Martins |
| author_sort | M J Peres |
| collection | DOAJ |
| description | The primary objective of newborn screening of hemoglobinopathies is the early identification of infants with sickle cell disease, as they are at increased clinical risk. Other goals include the identification of other types of clinically significant hemoglobinopathies and the detection of heterozygous carriers followed by the screening and counselling of family members. We performed a pilot study for the neonatal screening of hemoglobinopathies in 400 samples of cord blood taken from a maternity in Lisbon. We did not find any newborn with sickle cell disease. Six samples were from sickle cell heterozygotes, the respective families were studied and informed. We looked for the presence of alpha-thalassemia at birth in 100 consecutive samples of cord blood, by the presence of Hb Bart's, abnormal red blood cell indices and alpha-globin genotype. The results show an incidence of 10% of alpha-thalassemia (-alpha) carriers and 4% of triple alpha-globin gene carriers. The authors discuss the feasibility of neonatal screening of hemoglobinopathies in a Portuguese-speaking population consisting of a low prevalence of Hb S trait autoclonous group and a high prevalence immigrant minority. |
| first_indexed | 2024-04-11T10:14:56Z |
| format | Article |
| id | doaj.art-38c4bbf9023040f8aed24f41c2e80854 |
| institution | Directory Open Access Journal |
| issn | 0870-399X 1646-0758 |
| language | English |
| last_indexed | 2024-04-11T10:14:56Z |
| publishDate | 1996-06-01 |
| publisher | Ordem dos Médicos |
| record_format | Article |
| series | Acta Médica Portuguesa |
| spelling | doaj.art-38c4bbf9023040f8aed24f41c2e808542022-12-22T04:29:59ZengOrdem dos MédicosActa Médica Portuguesa0870-399X1646-07581996-06-0194-610.20344/amp.2569Rastreio neonatal de hemoglobinopatias numa população residente em Portugal.M J Peres0M H CarreiroM C MachadoT SeixasI PicançoL BatalhaJ LavinhaM C MartinsDepartamento de Genética e Biologia Médica, Instituto Nacìonal de Saúde Dr Ricardo Jorge, Alfredo da Costa, Lisboa.The primary objective of newborn screening of hemoglobinopathies is the early identification of infants with sickle cell disease, as they are at increased clinical risk. Other goals include the identification of other types of clinically significant hemoglobinopathies and the detection of heterozygous carriers followed by the screening and counselling of family members. We performed a pilot study for the neonatal screening of hemoglobinopathies in 400 samples of cord blood taken from a maternity in Lisbon. We did not find any newborn with sickle cell disease. Six samples were from sickle cell heterozygotes, the respective families were studied and informed. We looked for the presence of alpha-thalassemia at birth in 100 consecutive samples of cord blood, by the presence of Hb Bart's, abnormal red blood cell indices and alpha-globin genotype. The results show an incidence of 10% of alpha-thalassemia (-alpha) carriers and 4% of triple alpha-globin gene carriers. The authors discuss the feasibility of neonatal screening of hemoglobinopathies in a Portuguese-speaking population consisting of a low prevalence of Hb S trait autoclonous group and a high prevalence immigrant minority.https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2569 |
| spellingShingle | M J Peres M H Carreiro M C Machado T Seixas I Picanço L Batalha J Lavinha M C Martins Rastreio neonatal de hemoglobinopatias numa população residente em Portugal. Acta Médica Portuguesa |
| title | Rastreio neonatal de hemoglobinopatias numa população residente em Portugal. |
| title_full | Rastreio neonatal de hemoglobinopatias numa população residente em Portugal. |
| title_fullStr | Rastreio neonatal de hemoglobinopatias numa população residente em Portugal. |
| title_full_unstemmed | Rastreio neonatal de hemoglobinopatias numa população residente em Portugal. |
| title_short | Rastreio neonatal de hemoglobinopatias numa população residente em Portugal. |
| title_sort | rastreio neonatal de hemoglobinopatias numa populacao residente em portugal |
| url | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/2569 |
| work_keys_str_mv | AT mjperes rastreioneonataldehemoglobinopatiasnumapopulacaoresidenteemportugal AT mhcarreiro rastreioneonataldehemoglobinopatiasnumapopulacaoresidenteemportugal AT mcmachado rastreioneonataldehemoglobinopatiasnumapopulacaoresidenteemportugal AT tseixas rastreioneonataldehemoglobinopatiasnumapopulacaoresidenteemportugal AT ipicanco rastreioneonataldehemoglobinopatiasnumapopulacaoresidenteemportugal AT lbatalha rastreioneonataldehemoglobinopatiasnumapopulacaoresidenteemportugal AT jlavinha rastreioneonataldehemoglobinopatiasnumapopulacaoresidenteemportugal AT mcmartins rastreioneonataldehemoglobinopatiasnumapopulacaoresidenteemportugal |