Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal
Introduction: Microcytosis and hypochromia result from deficient hemoglobin synthesis in red blood cells and are easily detected in a complete blood count test. These conditions are mainly due to iron nutritional deficiency, but may also result from some genetic diseases, such as thalassemia. The a...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Ordem dos Médicos
2023-03-01
|
| Series: | Acta Médica Portuguesa |
| Subjects: | |
| Online Access: | http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/19162 |
| _version_ | 1811154969411190784 |
|---|---|
| author | Daniela Santos Marta Barreto Irina Kislaya Joana Mendonça Miguel P. Machado Pedro Lopes Carlos Matias Dias Paula Faustino |
| author_facet | Daniela Santos Marta Barreto Irina Kislaya Joana Mendonça Miguel P. Machado Pedro Lopes Carlos Matias Dias Paula Faustino |
| author_sort | Daniela Santos |
| collection | DOAJ |
| description |
Introduction: Microcytosis and hypochromia result from deficient hemoglobin synthesis in red blood cells and are easily detected in a complete blood count test. These conditions are mainly due to iron nutritional deficiency, but may also result from some genetic diseases, such as thalassemia. The aim of this study was to determine the contribution of β- and α-thalassemia to these abnormal hematological phenotypes in a representative sample of adult individuals living in Portugal who participated in the first Portuguese National Health Examination Survey (INSEF).
Material and Methods: Among the 4808 INSEF participants, 204 had microcytosis, hypochromia or both. The corresponding 204 DNAs were screened for changes in the β-globin gene by next-generation sequencing and Sanger sequencing. In addition, α-thalassemia deletions within the α-globin cluster were investigated by Gap-PCR and multiplex ligation-dependent probe amplification.
Results: In this selected subgroup of INSEF participants, 54 had α-thalassemia (26%), predominantly caused by the -α3.7kb deletion, and 22 were β-thalassemia carriers (11%) mainly due to point mutations in the β-globin gene previously known in Portugal.
Conclusion: Thalassemia trait is a frequent cause of microcytosis or hypochromia in Portugal since this genetic condition was found in 37% of the investigated cases.
|
| first_indexed | 2024-04-10T04:26:06Z |
| format | Article |
| id | doaj.art-674cbbe5b95347df8bde0b8d817a34c1 |
| institution | Directory Open Access Journal |
| issn | 0870-399X 1646-0758 |
| language | English |
| last_indexed | 2024-04-10T04:26:06Z |
| publishDate | 2023-03-01 |
| publisher | Ordem dos Médicos |
| record_format | Article |
| series | Acta Médica Portuguesa |
| spelling | doaj.art-674cbbe5b95347df8bde0b8d817a34c12023-03-10T14:15:00ZengOrdem dos MédicosActa Médica Portuguesa0870-399X1646-07582023-03-0110.20344/amp.19162Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in PortugalDaniela Santos 0Marta Barreto1Irina Kislaya2Joana Mendonça3Miguel P. Machado4Pedro Lopes5Carlos Matias Dias 6Paula Faustino7Department of Human Genetics. Instituto Nacional de Saúde Doutor Ricardo Jorge. Lisbon.Department of Epidemiology. Instituto Nacional de Saúde Doutor Ricardo Jorge. Lisbon; Centro de Investigação em Saúde Pública. Escola Nacional de Saúde Pública. Universidade NOVA de Lisboa. Lisbon.Department of Epidemiology. Instituto Nacional de Saúde Doutor Ricardo Jorge. Lisbon; Centro de Investigação em Saúde Pública. Escola Nacional de Saúde Pública. Universidade NOVA de Lisboa. Lisbon.Department of Human Genetics. Instituto Nacional de Saúde Doutor Ricardo Jorge. Lisbon. Department of Human Genetics. Instituto Nacional de Saúde Doutor Ricardo Jorge. Lisbon. Department of Human Genetics. Instituto Nacional de Saúde Doutor Ricardo Jorge. Lisbon. Department of Epidemiology. Instituto Nacional de Saúde Doutor Ricardo Jorge. Lisbon; Centro de Investigação em Saúde Pública. Escola Nacional de Saúde Pública. Universidade NOVA de Lisboa. Lisbon.Department of Human Genetics. Instituto Nacional de Saúde Doutor Ricardo Jorge. Lisbon; Instituto de Saúde Ambiental. Faculdade de Medicina. Universidade de Lisboa. Lisbon. Introduction: Microcytosis and hypochromia result from deficient hemoglobin synthesis in red blood cells and are easily detected in a complete blood count test. These conditions are mainly due to iron nutritional deficiency, but may also result from some genetic diseases, such as thalassemia. The aim of this study was to determine the contribution of β- and α-thalassemia to these abnormal hematological phenotypes in a representative sample of adult individuals living in Portugal who participated in the first Portuguese National Health Examination Survey (INSEF). Material and Methods: Among the 4808 INSEF participants, 204 had microcytosis, hypochromia or both. The corresponding 204 DNAs were screened for changes in the β-globin gene by next-generation sequencing and Sanger sequencing. In addition, α-thalassemia deletions within the α-globin cluster were investigated by Gap-PCR and multiplex ligation-dependent probe amplification. Results: In this selected subgroup of INSEF participants, 54 had α-thalassemia (26%), predominantly caused by the -α3.7kb deletion, and 22 were β-thalassemia carriers (11%) mainly due to point mutations in the β-globin gene previously known in Portugal. Conclusion: Thalassemia trait is a frequent cause of microcytosis or hypochromia in Portugal since this genetic condition was found in 37% of the investigated cases. http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/19162ErythrocytesErythrocyte IndicesHematologic TestsPortugalThalassemia/diagnosisThalassemia/genetics |
| spellingShingle | Daniela Santos Marta Barreto Irina Kislaya Joana Mendonça Miguel P. Machado Pedro Lopes Carlos Matias Dias Paula Faustino Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal Acta Médica Portuguesa Erythrocytes Erythrocyte Indices Hematologic Tests Portugal Thalassemia/diagnosis Thalassemia/genetics |
| title | Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal |
| title_full | Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal |
| title_fullStr | Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal |
| title_full_unstemmed | Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal |
| title_short | Prevalence Rate of Thalassemia Carriers among Individuals with Microcytosis or Hypochromia in Portugal |
| title_sort | prevalence rate of thalassemia carriers among individuals with microcytosis or hypochromia in portugal |
| topic | Erythrocytes Erythrocyte Indices Hematologic Tests Portugal Thalassemia/diagnosis Thalassemia/genetics |
| url | http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/19162 |
| work_keys_str_mv | AT danielasantos prevalencerateofthalassemiacarriersamongindividualswithmicrocytosisorhypochromiainportugal AT martabarreto prevalencerateofthalassemiacarriersamongindividualswithmicrocytosisorhypochromiainportugal AT irinakislaya prevalencerateofthalassemiacarriersamongindividualswithmicrocytosisorhypochromiainportugal AT joanamendonca prevalencerateofthalassemiacarriersamongindividualswithmicrocytosisorhypochromiainportugal AT miguelpmachado prevalencerateofthalassemiacarriersamongindividualswithmicrocytosisorhypochromiainportugal AT pedrolopes prevalencerateofthalassemiacarriersamongindividualswithmicrocytosisorhypochromiainportugal AT carlosmatiasdias prevalencerateofthalassemiacarriersamongindividualswithmicrocytosisorhypochromiainportugal AT paulafaustino prevalencerateofthalassemiacarriersamongindividualswithmicrocytosisorhypochromiainportugal |