Tatiana Baglo, Alban Zohoun, Simon Azonbakin, Bienvenu Houssou, Romaric Massi, Charlotte Orou Guiwa, Ludovic Anani, Dorothée Kindé Gazard, Awa Omar Touré Fall
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 Study Design and Methodology: A systematic review was carried out using the electronic databases Pubmed, Science Direct, Index Medicus Global and African Journals online and the key words \"hemophilia A\", \"inhibitor\", \"genetic\" and \"Africa\". Studies written in French or English on the African continent and published between 2012 and 2023 were included. Publications relating to acquired hemophilia and duplicates were excluded. In the end, 17 articles were selected.
 Results: The factor VIII mutations involved in severe hemophilia A in Africa are variable, consisting of intron 22 inversion, large or point deletions, nonsense and missense mutations and splicing abnormalities. Among the latter, numerous previously unrecorded mutations have been identified, and a single case of intron 1 inversion has been found in Algeria. Prevalence of factor VIII inhibitors in severe hemophilia A in Africa varies between 7,8% and 30%. Genetic abnormalities associated with inhibitors include intron 22 inversion, large deletions such as exon 1-13 deletion, nonsense mutations and c.1010-2A>G mutation.
 Conclusion: A better knowledge of the factor VIII mutations involved in severe hemophilia A in Africa will help improve patient management.","PeriodicalId":13659,"journal":{"name":"International Blood Research & Reviews","volume":"26 1","pages":"0"},"PeriodicalIF":0.0000,"publicationDate":"2023-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Systematic Review of Genetic-Related Risk Factor and Inhibitor Epidemiology in People with Severe Hemophilia a from Africa: A 2023 Update\",\"authors\":\"Tatiana Baglo, Alban Zohoun, Simon Azonbakin, Bienvenu Houssou, Romaric Massi, Charlotte Orou Guiwa, Ludovic Anani, Dorothée Kindé Gazard, Awa Omar Touré Fall\",\"doi\":\"10.9734/ibrr/2023/v14i4324\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Background and Aims: Prevalence of factor VIII inhibitors in patients with hemophilia A varies from study to study, ranging from 15% to 30%. The important risk of inhibitor development is factor VIII mutation responsible for hemophilia A. Few studies have reported factor VIII mutations in Africa. The aim of this study was to review on FVIII gène mutations of severe hemophilia A in Africa and those associated with inhibitor development.
 Study Design and Methodology: A systematic review was carried out using the electronic databases Pubmed, Science Direct, Index Medicus Global and African Journals online and the key words \\\"hemophilia A\\\", \\\"inhibitor\\\", \\\"genetic\\\" and \\\"Africa\\\". Studies written in French or English on the African continent and published between 2012 and 2023 were included. Publications relating to acquired hemophilia and duplicates were excluded. In the end, 17 articles were selected.
 Results: The factor VIII mutations involved in severe hemophilia A in Africa are variable, consisting of intron 22 inversion, large or point deletions, nonsense and missense mutations and splicing abnormalities. Among the latter, numerous previously unrecorded mutations have been identified, and a single case of intron 1 inversion has been found in Algeria. Prevalence of factor VIII inhibitors in severe hemophilia A in Africa varies between 7,8% and 30%. Genetic abnormalities associated with inhibitors include intron 22 inversion, large deletions such as exon 1-13 deletion, nonsense mutations and c.1010-2A>G mutation.
 Conclusion: A better knowledge of the factor VIII mutations involved in severe hemophilia A in Africa will help improve patient management.\",\"PeriodicalId\":13659,\"journal\":{\"name\":\"International Blood Research & Reviews\",\"volume\":\"26 1\",\"pages\":\"0\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-10-09\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Blood Research & Reviews\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.9734/ibrr/2023/v14i4324\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Blood Research & Reviews","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.9734/ibrr/2023/v14i4324","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
摘要
背景和目的:血友病A患者中因子VIII抑制剂的患病率因研究而异,从15%到30%不等。抑制剂发展的重要风险是导致a型血友病的因子VIII突变,很少有研究报道非洲的因子VIII突变。本研究的目的是回顾非洲严重血友病A的FVIII基因突变以及与抑制剂发展相关的突变。研究设计与方法:采用Pubmed、Science Direct、Index Medicus Global和African Journals online电子数据库,以“血友病A”、“抑制剂”、“遗传”和“非洲”为关键词进行系统综述。其中包括2012年至2023年期间在非洲大陆用法语或英语撰写的研究报告。排除了与获得性血友病相关的出版物和重复出版物。最终,17篇文章入选。
结果:非洲地区严重A型血友病患者的因子VIII突变是可变的,包括内含子22倒置、大或点缺失、无义和错义突变以及剪接异常。在后者中,已经发现了许多以前未记录的突变,并且在阿尔及利亚发现了一个内含子1反转的病例。非洲严重A型血友病患者中因子VIII抑制剂的患病率在7.8%至30%之间。与抑制剂相关的遗传异常包括内含子22反转、大缺失(如外显子1-13缺失)、无义突变和c.1010-2A>G突变。结论:更好地了解与非洲严重血友病A相关的因子VIII突变将有助于改善患者管理。
Systematic Review of Genetic-Related Risk Factor and Inhibitor Epidemiology in People with Severe Hemophilia a from Africa: A 2023 Update
Background and Aims: Prevalence of factor VIII inhibitors in patients with hemophilia A varies from study to study, ranging from 15% to 30%. The important risk of inhibitor development is factor VIII mutation responsible for hemophilia A. Few studies have reported factor VIII mutations in Africa. The aim of this study was to review on FVIII gène mutations of severe hemophilia A in Africa and those associated with inhibitor development.
Study Design and Methodology: A systematic review was carried out using the electronic databases Pubmed, Science Direct, Index Medicus Global and African Journals online and the key words "hemophilia A", "inhibitor", "genetic" and "Africa". Studies written in French or English on the African continent and published between 2012 and 2023 were included. Publications relating to acquired hemophilia and duplicates were excluded. In the end, 17 articles were selected.
Results: The factor VIII mutations involved in severe hemophilia A in Africa are variable, consisting of intron 22 inversion, large or point deletions, nonsense and missense mutations and splicing abnormalities. Among the latter, numerous previously unrecorded mutations have been identified, and a single case of intron 1 inversion has been found in Algeria. Prevalence of factor VIII inhibitors in severe hemophilia A in Africa varies between 7,8% and 30%. Genetic abnormalities associated with inhibitors include intron 22 inversion, large deletions such as exon 1-13 deletion, nonsense mutations and c.1010-2A>G mutation.
Conclusion: A better knowledge of the factor VIII mutations involved in severe hemophilia A in Africa will help improve patient management.