The Use of Genetic Diagnostic Tests to Identify Factor VIII Inhibitors in Patients with Hemophilia A: an Integrative Study

EasyChair Preprint 10541

Abstract

Hemophilia A is an X chromosome-linked bleeding disorder that leads to the complete absence or decrease of clotting factor VIII. People with hemophilia A may experience spontaneous bleeding events. Accurate diagnosis of hemophilia is essential to determine appropriate management. Prophylactic treatment with coagulant FVIII (factor FVIII) is well established as the standard of care for the treatment and prevention of bleeding episodes. However, some patients being treated with prophylaxis may develop inhibitors, which, in hemophilia, refer to IgG antibodies that neutralize clotting factors. Confirmation of the presence of an inhibitor and quantification of the titer is performed through genetic tests to identify factor VIII inhibitors. In this work we list the differences between the types of genetic tests: Nijmegen-Bethesda Assay (NBA), Bethesda Chromogenic Assay (CBA), Fluorescence Immunoassay (FLI) and Enzyme Immunoassay (ELISA). This study was carried out following elements of the systematic review methodology, in order to analyze the differences between the test characteristics and their sensitivities. The study analyzed 10 articles, which suggest that the results of these tests can be more assertive when combined with each other: The NBA as a standard method, associated with the Fluorescence Immunoassay (FLI), which can predict potential inhibitors, or the enzyme immunoassay (ELISA), which can have greater sensitivity to low-titer inhibitors. Therefore, studies that analyze these combinations between different techniques are necessary, and that help to find a standardization of clinical trials.

Keyphrases: Hemophilia, clinical trials, diagnosis of hemophilia, genetic tests, systematic review

@booklet{EasyChair:10541,
  author    = {Thais de Jesus Batista Cabral and Fernanda Almeida},
  title     = {The Use of Genetic Diagnostic Tests to Identify Factor VIII Inhibitors in Patients with Hemophilia A: an Integrative Study},
  howpublished = {EasyChair Preprint 10541},
  year      = {EasyChair, 2023}}