F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis
SC Gouw, HM van den Berg… - Blood, The Journal …, 2012 - ashpublications.org
This systematic review was designed to provide more precise effect estimates of inhibitor
development for the various types of F8 gene mutations in patients with severe hemophilia …
development for the various types of F8 gene mutations in patients with severe hemophilia …
F8 inversions of introns 22 and 1 confer a moderate risk of inhibitors in Mexican patients with severe hemophilia A. Concordance analysis and literature review
H Luna-Záizar, JÁ González-Alcázar… - Blood Cells, Molecules …, 2018 - Elsevier
Abstract Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half
of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against …
of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against …
Genotype hemophilia screening program identified 2 novel variants including a novel variant (c. 5816-2A> G) causing a pathogenic variant of the factor 8 gene
Establishing a national screening program for hemophilia patients is highly encouraged by
the World Health Organization and the World Federation of Hemophilia. Hence, this study …
the World Health Organization and the World Federation of Hemophilia. Hence, this study …
Factor VIII inhibitor development in Egyptian hemophilia patients: does intron 22 inversion mutation play a role?
LM Sherief, OA Gaber, HM Youssef… - Italian Journal of …, 2020 - Springer
Abstract Background Hemophilia A (HA) is an X-linked recessive bleeding disorder
characterized by qualitative and quantitative deficiency of factor VIII (FVIII). The development …
characterized by qualitative and quantitative deficiency of factor VIII (FVIII). The development …
Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations
S Albánez, A Ruiz‐Saez, A Boadas, N De Bosch… - …, 2011 - Wiley Online Library
Haemophilia A is caused by mutations in the gene encoding coagulation factor VIII (FVIII). In
severe Haemophilia A (sHA), two inversions are responsible for approximately 50% of the …
severe Haemophilia A (sHA), two inversions are responsible for approximately 50% of the …
First report of molecular diagnosis of Tunisian hemophiliacs A: identification of 8 novel causative mutations
H Elmahmoudi, H Khodjet-el-khil, E Wigren, A Jlizi… - Diagnostic …, 2012 - Springer
Introduction Hemophilia A is an X linked recessive hemorrhagic disorder caused by
mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of …
mutations in the F8 gene that lead to qualitative and/or quantitative deficiencies of …
Serum TNF‐α Level as a Possible Predictor of Inhibitor Levels in Severe Hemophilia A
S Susanah, H Raspati, NM Sari… - BioMed Research …, 2021 - Wiley Online Library
Background. The development of factor VIII (FVIII) inhibitor in patients with hemophilia A
(PWHA) is a great challenge for hemophilia care. Both genetic and environmental factors led …
(PWHA) is a great challenge for hemophilia care. Both genetic and environmental factors led …
Factor VIII intron 22 inversion in severe hemophilia A patients in Palestine
C Mahmoud Abu Arra, F Samarah… - …, 2020 - Wiley Online Library
Background. Hemophilia A is an X‐linked recessive bleeding disorder caused by mutations
in FVIII gene with an incidence of 1 in 5,000 to 10,000 live born males. The Inv22 mutation is …
in FVIII gene with an incidence of 1 in 5,000 to 10,000 live born males. The Inv22 mutation is …
[HTML][HTML] Molecular analysis of factor VIII and factor IX genes in hemophilia patients: identification of novel mutations and molecular dynamics studies
FA Al-Allaf, MM Taher, Z Abduljaleel… - Journal of clinical …, 2017 - ncbi.nlm.nih.gov
Background Hemophilias A and B are X-linked bleeding disorders caused by mutations in
the factor VIII and factor IX genes, respectively. Our objective was to identify the spectrum of …
the factor VIII and factor IX genes, respectively. Our objective was to identify the spectrum of …
[PDF][PDF] Mutation screening of the factor VIII gene in hemophilia A in Saudi Arabia: two novel mutations and genotype-phenotype correlation
1Faculty of Medicine, Department of Medical Genetics, Umm Al-Qura University, Makkah,
Saudi Arabia 2Molecular Diagnostics Unit, Department of Laboratory Medicine and Blood …
Saudi Arabia 2Molecular Diagnostics Unit, Department of Laboratory Medicine and Blood …