Advancements in the diagnosis and management of haemophilia from traditional therapies to gene editing: a narrative review

Abstract

Hemophilia is an X linked rare hereditary bleeding disorder, caused by deficiencies in clotting factors VIII (Hemophilia A) or IX (Hemophilia B). Its diagnosis and treatment —from conventional factor replacement therapy to advanced gene-editing techniques. The intent is to present a narrative review about the evolution of diagnosis and treatment of hemophilia. Literature between 2012 and 2024 was cross-checked by using the keywords “Hemophilia A”, “Hemophilia B”, and “gene therapy” in the search fields of PubMed, EMBASE, the Cochrane Library, Web of Science, and Google Scholar. Only studies related to human subjects with Hemophilia A or B who received diagnosis or treatment were included; English was the only accepted language. The review included case-control studies, cohort studies, randomized controlled trials, systematic reviews, and meta-analyses. Alternative medicines, animal experiments, and non-original research were among the exclusion criteria. The articles were screened for relevance and consistency using Rayyan software by two impartial reviewers. As a result of reviewing the literature, the study was based on 13 relevant studies. Firstly, gene therapy allows the body to naturally produce clotting factors, successfully restoring IX levels in hemophilia B patients. Secondly, non-factor therapies, such as Emicizumab, provide modern alternatives that enhance clotting without traditional factors. Finally, emerging technologies like CRISPR/Cas9 provide opportunities for permanent and personalized cures. This review highlights the transformative potential of gene therapy, which enables the body to produce clotting factors via adeno-associated viral vectors, addressing the limitations of traditional therapies. Integrated care through multidisciplinary teams is essential for improving outcomes.