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PubMed2026

Knowledge on the Haemophilia Care Among Healthcare Providers in Tanzania: A Multicenter Cross-Sectional Study.

BACKGROUND: Haemophilia is a rare inherited bleeding disorder associated with recurrent bleeding, disability, and mortality when diagnosis and management are delayed. In low- and middle-income countries, limited diagnostic capacity, access to treatment and gaps in Healthcare Providers' (HCPs') knowledge are major contributors to morbidity and mortality. In Tanzania, the recent improvement in haemophilia services highlights the need for systematic evaluation of HCPs' knowledge and clinical practices. OBJECTIVE: The study assessed the knowledge of haemophilia care among healthcare providers in Tanzania. METHODS: A multicenter hospital-based cross-sectional study was conducted among HCPs in tertiary and regional hospitals in Tanzania. A structured self-administered questionnaire assessed knowledge on haemophilia, including the pathophysiology, clinical features, diagnosis, treatment, and complications. Data were analyzed using IBM SPSS statistics version 27. RESULTS: Among 799 HCPs assessed (50.9%) aged 20-29 and (59.2%) males. Nurses were the majority (31.8%), and 75.2% had ≤5 years' experience. Overall haemophilia knowledge was high (median 83.3%, IQR: 75.9-88.9), strongest performance in general knowledge and weakest in treatment (68.2%, IQR: 54.5-77.3). Most respondents identified haemophilia as inherited (95.6%), non-infectious (93.7%), and recognized prolonged bleeding after injury or circumcision as key-symptoms (>90%). Knowledge varied by cadre, department, and experience (p<0.05); physicians and specialists scored higher than nurses, while health attendants scored lower. CONCLUSION: Healthcare providers demonstrated fairly adequate general knowledge of haemophilia. However, gaps remain in understanding genetic inheritance, acquired haemophilia, and modern treatment strategies, with knowledge variation by cadre, department, and experience, highlighting the need for targeted education across all HCPs groups.

Tanzania↗

PubMed2026

Utilisation and Perceived Value of Genetic Counsellors Within US Haemophilia Treatment Centres.

INTRODUCTION: Rapid advancement of molecular genetics has transformed the diagnosis, treatment, and management of individuals with hereditary bleeding disorders. To provide effective, up-to-date genetic counselling, navigate the complexity of these conditions, and select appropriate molecular testing, genetics expertise is required. AIM: This study assessed the provision of genetic counselling services, involvement of genetic counsellors (GCs), and the perceived value of GCs within haemophilia treatment centres (HTCs) in the United States. METHODS: A survey was emailed to 396 HTC providers. Of these, 115 responses were received, representing 68 of 149 US HTCs (45.6% HTC participation rate). Responses were stratified by level of GC engagement. RESULTS: Although GCs have extensive training in genetics, genomics and counselling skills, nearly one-third of respondents (34.9%, n = 38) reported that a GC is not involved with the HTC nor are referrals made. Almost all GC-engaged respondents (98%, n = 22) and GC-referral respondents (95%, n = 20) agreed that 'GCs have a unique skill set that is highly valuable to an HTC clinic' compared to only 62% (n = 20) of non-GC-engaged respondents (p = 0.001). Additionally, respondents noted positive implications of integrating a GC within their HTCs, stating that GCs are 'ideal for optimal patient care'. CONCLUSION: These results highlight the value of a GC within an HTC. This signifies the need to reassess the role of GCs among HTCs to reduce inconsistencies in provision of genetic counselling and increase healthcare equity.

Humans↗

PubMed2025

Self-organization of sinusoidal vessels in pluripotent stem cell-derived human liver bud organoids.

The induction of tissue-specific vessels in in vitro living tissue systems remains challenging. Here, we directly differentiated human pluripotent stem cells into CD32b+ putative liver sinusoidal progenitors by dictating developmental pathways. By devising an inverted multilayered air-liquid interface culture, hepatic endoderm, septum mesenchyme, arterial and sinusoidal quadruple progenitors self-organize to generate and sustain hepatocyte-like cells neighboured by divergent endothelial subsets composed of CD32blowCD31high, LYVE1+STAB1+CD32bhighCD31lowTHBD-vWF- and LYVE1-THBD+vWF+ cells. WNT2 mediates sinusoidal-to-hepatic intercellular crosstalk potentiating hepatocyte differentiation and branched endothelial network formation. Intravital imaging reveals the iPS-cell-derived putative liver sinusoidal endothelial progenitor develops fully perfused human vessels with functional sinusoid-like features. Organoid-derived hepatocyte- and sinusoid-derived coagulation factors enable correction of in vitro clotting time with Factor V-, VIII-, IX- and XI-deficient plasma, and rescues the severe bleeding phenotype in haemophilia A mice on transplantation. Advanced organoid vascularization technology allows for interrogating key insights governing organ-specific vessel development, paving the way for coagulation disorder therapeutics.

Humans↗

PubMed2026

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A.

BACKGROUND: Among F8 mutation types, main determinants of inhibitor development after replacement therapy in Hemophilia A (HA), nonsense mutations display wide variation in the associated risk. Translational readthrough (Rdthr) at premature termination codons (PTCs) produces traces of full-length factor VIII (FVIII) including missense and wild-type molecules (WT Rdthr), and may influence the immune response involved in inhibitor formation. METHODS: For inhibitor association analysis, we investigated F8 genotypes, inhibitor status and Rdthr features in 335 PTCs (1048 patients), recorded in the European Association for Haemophilia and Allied Disorders (EAHAD) database, and exploited expression of F8 PTCs variants. Mean-differences in affinity of HLA-DR alleles for FVIII WT peptides and their missense counterparts were bioinformatically calculated. RESULTS: WT Rdthr was higher for patients affected by PTCs not associated with inhibitor and was not predicted at all in patients with PTCs detected in at least three inhibitor positive cases (n = 136, p = 0.0001). WT Rdthr was lower for PTCs in the inhibitor prone FVIII light chain. Among FVIII PTCs fused with luciferase, quantitative output of WT Rdthr negative and positive groups did not differ, potentially highlighting for the positive group the importance of WT Rdthr to decrease inhibitor association. Readthrough output was the lowest among WT Rdthr negative PTCs, highly associated with inhibitors. The WT Rdthr prediction was extended to all PTCs that could arise by single nucleotide variations for the entire F8 coding sequence. Estimated WT Rdthr was higher in PTCs reported in EAHAD than those predicted (n = 662), foreseeing a higher risk of developing inhibitors. In silico mean differences in affinity of HLA-DR alleles for WT FVIII peptides and their missense counterparts, potentially arising from Rdthr of PTCs without WT formation (n = 297), were higher for missense variants predicted in patients with inhibitors than without (p < 0.0001), and increased for PTCs present in more than one patient with inhibitor, potentially supporting immunogenic features. CONCLUSIONS: The new genetic classification of HA PTCs may improve our knowledge about their relationship with inhibitors. It deserves to be explored for estimating inhibitor PTC association in HLA genotyped patients as well as in other human diseases.

Humans↗