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Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening
BACKGROUND: Sickle Cell Disease (SCD) is an inherited condition that is widespread globally and especially in malaria-endemic West African countries. Limited epidemiological data on SCD are available for Guinea Bissau, where newborn screening is not yet implemented, routine diagnosis is not availabl...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9021572/ https://www.ncbi.nlm.nih.gov/pubmed/35463879 http://dx.doi.org/10.3389/fped.2022.826262 |
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author | Martella, Maddalena Campeggio, Mimma Pulè, Gift Wonkam, Ambroise Menzato, Federica Munaretto, Vania Viola, Giampietro Da Costa, Sabado P. Reggiani, Giulia Araujo, Antonia Cumbà, Dionisio Liotta, Giuseppe Sainati, Laura Riccardi, Fabio Colombatti, Raffaella |
author_facet | Martella, Maddalena Campeggio, Mimma Pulè, Gift Wonkam, Ambroise Menzato, Federica Munaretto, Vania Viola, Giampietro Da Costa, Sabado P. Reggiani, Giulia Araujo, Antonia Cumbà, Dionisio Liotta, Giuseppe Sainati, Laura Riccardi, Fabio Colombatti, Raffaella |
author_sort | Martella, Maddalena |
collection | PubMed |
description | BACKGROUND: Sickle Cell Disease (SCD) is an inherited condition that is widespread globally and especially in malaria-endemic West African countries. Limited epidemiological data on SCD are available for Guinea Bissau, where newborn screening is not yet implemented, routine diagnosis is not available, and care is case directed. METHODS: Dried blood spots were collected from children accessing two hospitals managed by Italian Non-Governmental Organizations in the capital city of Bissau and sent to Padova for Hemoglobin (Hb) quantification through HPLC and molecular analysis. Beta globin gene analysis was performed in all; and Hb haplotype of the HbSS and HbSA patients was performed in South Africa. One hundred samples belonging to the most frequent ethnic groups were randomly selected for detection of G6PD mutations. RESULTS: Samples from 848 consecutive children (498 males and 350 females, mean age 6.8 years) accessing the two hospitals were analyzed: 6.95% AS (4.42% allelic frequency), 0.94% SS, and 0.23% AC. 376G G6PD allelic frequency was 24%; 14.8% in AS individuals. The Senegal haplotype was the most prevalent (31%), and the proposition of chromosomes with the atypical haplotype was surprisingly high (56%). CONCLUSION: Our study demonstrates a significant frequency of the HbS allele in the population of Guinea Bissau supporting the implementation of screening strategies. The differences among ethnic groups can help guide targeted interventions for SCD awareness campaigns and determine priority areas for public health interventions. The pilot analysis on haplotypes reveals a large proportion of the atypical haplotype, which may be indicative of a genetically heterogeneous population. |
format | Online Article Text |
id | pubmed-9021572 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-90215722022-04-22 Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening Martella, Maddalena Campeggio, Mimma Pulè, Gift Wonkam, Ambroise Menzato, Federica Munaretto, Vania Viola, Giampietro Da Costa, Sabado P. Reggiani, Giulia Araujo, Antonia Cumbà, Dionisio Liotta, Giuseppe Sainati, Laura Riccardi, Fabio Colombatti, Raffaella Front Pediatr Pediatrics BACKGROUND: Sickle Cell Disease (SCD) is an inherited condition that is widespread globally and especially in malaria-endemic West African countries. Limited epidemiological data on SCD are available for Guinea Bissau, where newborn screening is not yet implemented, routine diagnosis is not available, and care is case directed. METHODS: Dried blood spots were collected from children accessing two hospitals managed by Italian Non-Governmental Organizations in the capital city of Bissau and sent to Padova for Hemoglobin (Hb) quantification through HPLC and molecular analysis. Beta globin gene analysis was performed in all; and Hb haplotype of the HbSS and HbSA patients was performed in South Africa. One hundred samples belonging to the most frequent ethnic groups were randomly selected for detection of G6PD mutations. RESULTS: Samples from 848 consecutive children (498 males and 350 females, mean age 6.8 years) accessing the two hospitals were analyzed: 6.95% AS (4.42% allelic frequency), 0.94% SS, and 0.23% AC. 376G G6PD allelic frequency was 24%; 14.8% in AS individuals. The Senegal haplotype was the most prevalent (31%), and the proposition of chromosomes with the atypical haplotype was surprisingly high (56%). CONCLUSION: Our study demonstrates a significant frequency of the HbS allele in the population of Guinea Bissau supporting the implementation of screening strategies. The differences among ethnic groups can help guide targeted interventions for SCD awareness campaigns and determine priority areas for public health interventions. The pilot analysis on haplotypes reveals a large proportion of the atypical haplotype, which may be indicative of a genetically heterogeneous population. Frontiers Media S.A. 2022-04-07 /pmc/articles/PMC9021572/ /pubmed/35463879 http://dx.doi.org/10.3389/fped.2022.826262 Text en Copyright © 2022 Martella, Campeggio, Pulè, Wonkam, Menzato, Munaretto, Viola, Da Costa, Reggiani, Araujo, Cumbà, Liotta, Sainati, Riccardi and Colombatti. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Martella, Maddalena Campeggio, Mimma Pulè, Gift Wonkam, Ambroise Menzato, Federica Munaretto, Vania Viola, Giampietro Da Costa, Sabado P. Reggiani, Giulia Araujo, Antonia Cumbà, Dionisio Liotta, Giuseppe Sainati, Laura Riccardi, Fabio Colombatti, Raffaella Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening |
title | Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening |
title_full | Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening |
title_fullStr | Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening |
title_full_unstemmed | Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening |
title_short | Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening |
title_sort | distribution of hbs allele and haplotypes in a multi-ethnic population of guinea bissau, west africa: implications for public health screening |
topic | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9021572/ https://www.ncbi.nlm.nih.gov/pubmed/35463879 http://dx.doi.org/10.3389/fped.2022.826262 |
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