Étiologie des incompatibilités érythrocytaires : à propos de 10 649 cas

Sghaier, Fattouma Ben; Salem, Sarra Fekih; Lakhal, Fatma Ben; Borgi, Wijeden El; Gouider, Emna

doi:10.1016/j.tracli.2021.08.197

Cited by 1 publication

(9 citation statements)

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“…The frequency of intron 22 inversion of the factor VIII gene varies widely from one study to another and from one region of Africa to another. This mutation is reported in 36% [9], 38% [7] and 39.5% of severe PwH A [16] in South Africa, Senegal and Côte d'Ivoire respectively. However, in studies from Northern Africa such as Algeria and Morocco, intron 22 inversion appears to be more frequent, with frequencies of 89% [23] and 42.8% [10] respectively.…”

Section: F8 Gene Mutations Profile In Hemophilia a In Africamentioning

confidence: 92%

“…Overall, we identified 17 references through the electronic and manual searches that met the inclusion criteria and were considered for this systematic review. Nine of these references, studied the epidemiology of inhibitors in hemophilia A encountered in different African countries [9][10][11][12][13][14][15][16][17]. Four articles studied the factor VIII gene abnormalities involved in hemophilia A in Africa, and four others reported the FVIII gene variants associated with inhibitor development in hemophilia A [9,[18][19][20].…”

Section: Study Characteristicsmentioning

confidence: 99%

“…Four articles studied the factor VIII gene abnormalities involved in hemophilia A in Africa, and four others reported the FVIII gene variants associated with inhibitor development in hemophilia A [9,[18][19][20]. Studies were carried out in four Northern African countries (Morocco [12], Tunisia [16], Algeria [19] and Egypt [20]), two West African countries (Senegal [9,10,17] and Côte d'Ivoire [15,18]), one Central African country (Cameroon [13]) and South Africa [11,14].…”

Section: Study Characteristicsmentioning

confidence: 99%

“…The DNA extraction methods used varied from study to study. Some authors used organic solvents (phenol chloroform) [14,[21][22][23], while others used ion-exchange resin microcolumns [7,16]. [18].…”

Section: F8 Gene Mutations Profile In Hemophilia a In Africamentioning

confidence: 99%

“…In the case of severe hemophilia, detection of intron 22 inversion was carried out as a first step, and in its absence, the search for intron 1 inversion was a second step. In the absence of intron 22 and intron 1 inversions, sequencing has been performed by all authors, most of them using the latest sequencing techniques [7,16,23,29,30].…”

Section: F8 Gene Mutations Profile In Hemophilia a In Africamentioning

confidence: 99%

See 4 more Smart Citations

Systematic Review of Genetic-Related Risk Factor and Inhibitor Epidemiology in People with Severe Hemophilia a from Africa: A 2023 Update

Baglo,

Zohoun,

Azonbakin

et al. 2023

IBRR

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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.

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