Haemophilia : the official journal of the World Federation of Hemophilia
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Case Reports
Successful correction of factor V deficiency of patient-derived iPSCs by CRISPR/Cas9-mediated gene editing.
Factor V (FV) deficiency is a monogenic inherited coagulation disorder considered to be an ideal indication for gene therapy. To investigate the possibility of therapeutic application of genome editing, we generated induced pluripotent stem cells (iPSCs) from a FV-deficient patient and repaired the mutation of factor V gene (F5) using a clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated 9 (Cas9). ⋯ We successfully repaired the mutation of F5 using the CRISPR/Cas9 and confirmed the recovery of FV activity with gene-corrected iPS-HLCs. Gene-edited iPSCs are promising for elucidating the pathophysiology as well as for a modality of gene therapy.
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Letter Case Reports
Clinical findings in a patient with haemophilia A affected by COVID-19.
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Meta Analysis
Mental health disorders in haemophilia: Systematic literature review and meta-analysis.
Despite significant advances in morbidity and mortality outcomes, quality of life for people with haemophilia (PWH) remains compromised. Underrecognized and undertreated mental health disorders decrease quality of life; however, reports are inconsistent regarding the true prevalence of mental health disorders in PWH. ⋯ Overall, our meta-analysis suggests that the prevalence of depression, anxiety and ADHD across decades is significantly increased in PWH compared to the general population.