Detection of int1h-related inversion of the factor VIII gene

Pio, S. F.; Mühle, Christiane; Oliveira, Guilherme; Rezende, Suely Meireles

doi:10.1111/j.1365-2516.2010.02392.x

Cited by 5 publications

(2 citation statements)

References 3 publications

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“…The inter- and intra-assay CVs for the dilution used in this work were 12% and 20%, respectively. Inversions of introns 1 and 22 were detected by using a polymerase chain reaction–based method [ 17 , 18 ]. Exons and intron-exons boundaries were sequenced by a whole exome sequencing approach using xGen Exome Research Kits Panel v2 and xGen CNV Backbone Panel (IDT).…”

Section: Methodsmentioning

confidence: 99%

High levels of anti–factor VIII immunoglobulin G4 and immunoglobulin G total are associated with immune tolerance induction failure in people with congenital hemophilia A and high-responding inhibitors

Chaves,

da Silva Santos,

Zucherato

et al. 2024

Research and Practice in Thrombosis and Haemostasis

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Section: Methodsmentioning

confidence: 99%

High levels of anti–factor VIII immunoglobulin G4 and immunoglobulin G total are associated with immune tolerance induction failure in people with congenital hemophilia A and high-responding inhibitors

Chaves,

da Silva Santos,

Zucherato

et al. 2024

Research and Practice in Thrombosis and Haemostasis

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“…The detection of the Inv1 and Inv22 were performed according to established techniques. [25,26] Exome sequencing was performed by using the xGen Exome Research Panel v2 (Illumina) according to the manufacturer's instructions.…”

Section: Gene Mutation Analysismentioning

confidence: 99%

Time between inhibitor detection and start of immune tolerance induction: Association with outcome in the BrazIT study

Camelo

Dias

Caram‐Deelder

et al. 2022

Journal of Thrombosis and Haemostasis

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Hemophilia A (HA) is a rare bleeding disorder caused by reduced or absent clotting factor VIII (FVIII) activity due to mutation in its coding gene (F8). [1] FVIII replacement is required lifelong to treat bleeding, especially in severe cases (FVIII activity below 0.01 international units [IU]/mL). [1] Besides that, up to 44% of people with HA (PwHA) may develop neutralizing antibodies against exogenous FVIII (inhibitors). [2] The presence of inhibitors predispose PwHA to severe bleeding, [3] and increased morbidity and mortality. [4,5] The treatment of choice for persistent, high-responding inhibitors is immune tolerance induction (ITI), which consists of frequent and long-term infusions of FVIII. [1] Success rates among different ITI regimens range from 60%-90%. [6]

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Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network

Jardim,

Schieber,

Santana

et al. 2024

Journal of Thrombosis and Haemostasis

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Detection of int1h-related inversion of the factor VIII gene

Cited by 5 publications

References 3 publications

High levels of anti–factor VIII immunoglobulin G4 and immunoglobulin G total are associated with immune tolerance induction failure in people with congenital hemophilia A and high-responding inhibitors

High levels of anti–factor VIII immunoglobulin G4 and immunoglobulin G total are associated with immune tolerance induction failure in people with congenital hemophilia A and high-responding inhibitors

Time between inhibitor detection and start of immune tolerance induction: Association with outcome in the BrazIT study

Prediction of inhibitor development in previously untreated and minimally treated children with severe and moderately severe hemophilia A using a machine-learning network

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