Distribution of HbS Allele and Haplotypes in a Multi-Ethnic Population of Guinea Bissau, West Africa: Implications for Public Health Screening

Frontiers in Pediatrics

article

Maddalena Martella¹  Mimma Campeggio¹  Gift Pulè²  Ambroise Wonkam²  Federica Menzato¹  Vania Munaretto¹  Giampietro Viola¹  Sabado P. Da Costa³  Giulia Reggiani¹  Antonia Araujo³  Dionisio Cumbà⁴  Giuseppe Liotta⁵  Laura Sainati¹  Fabio Riccardi⁵  Raffaella Colombatti¹ 

[1]Clinic of Pediatric Hematology Oncology, Department of Woman's and Child's Health, Azienda Ospedale-Università di Padova

[2]Division of Human Genetics, University of Cape Town

[3]Hospital Raoul Follereau

[4]Clinica Pediatrica Bor

[5]Università di Tor Vergata

[6]Aid, Health and Development Onlus

关键词: HbS;    sickle cell;    screening;    Guinea Bissau;    multi-ethnic;    haplotypes;   

DOI  :  10.3389/fped.2022.826262

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

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.

【 授权许可】

CC BY