Background Record keeping is integral to home treatment for haemophilia. Issues with paper diaries include questionable compliance, data validity and quality. Implementation of electronic diaries (e-diaries) in haemophilia patients could improve documentation of home treatment. Aim This article evaluates the effects of an e-diary, Haemoassist, on recording and patient compliance with therapy. Patients and Methods An explorative study was used to assess the sequential use of paper diaries and e-diaries by 99 patients with severe haemophilia A or B and 1 with severe factor VII deficiency. Median age was 41 years. Information was obtained from paper records for 3 years preceding the introduction of an electronic record system and the first 6 to 12 months of Haemoassist use. Data from the 3-year period were averaged. Missing data for rounded 12 months of e-diary use were extrapolated to correspond to a full year. Results Enhancement of 23% in record delivery was observed for the period of Haemoassist use (p = 0.013). Twenty-one percent increase in patients’ compliance for data reporting (from 65% 35 to 86% 22, p = 0.003) and 16% increase for documentation of bleedings (from 68 to 84% of patients, p = 0.01) were detected. Compliance to prescribed therapy of patients for the whole studied period improved by 6% (from 82% ± 29 to 88% ± 25, p = 0.05). Major advances were demonstrated predominantly in the age groups of between 13 and 20 and 21 and 40 years. Conclusion e-Diaries' use enables improved recording of information about patients' home treatment and bleeding episodes. Enhanced compliance with therapy may be a further benefit.

Background: Familial multiple coagulation factor deficiencies (FMCFDs) are a group of inherited hemostatic disorders with the simultaneous reduction of plasma activity of at least two coagulation factors. As consequence, the type and severity of symptoms and the management of bleeding/thrombotic episodes vary among patients. The aim of this study was to identify the underlying genetic defect in patients with FMCFDs. Methods: Activity levels were collected from the largest cohort of laboratory-diagnosed FMCFD patients described so far. Genetic analysis was performed using next-generation sequencing. Results: In total, 52 FMCFDs resulted from coincidental co-inheritance of single-factor deficiencies. All coagulation factors (except factor XII (FXII)) were involved in different combinations. Factor VII (FVII) deficiency showed the highest prevalence. The second group summarized 21 patients with FMCFDs due to a single-gene defect resulting in combined FV/FVIII deficiency or vitamin K–dependent coagulation factor deficiency. In the third group, nine patients with a combined deficiency of FVII and FX caused by the partial deletion of chromosome 13 were identified. The majority of patients exhibited bleeding symptoms while thrombotic events were uncommon. Conclusions: FMCFDs are heritable abnormalities of hemostasis with a very low population frequency rendering them orphan diseases. A combination of comprehensive screening of residual activities and molecular genetic analysis could avoid under- and misdiagnosis.

Background Information about the impact of hemophilia on daily living and information preferences for patients and their caregivers in Central Europe has been limited. Methods This cross-national survey was conducted between April 1 and October 15, 2020 and utilized a self-administered questionnaire to collect data (Typeform™) from people living with hemophilia in Bulgaria, Croatia, Czech Republic, Hungary, Slovakia and Slovenia. The questionnaire included 22 questions regarding difficulties in daily life and preferences for receiving hemophilia-related information. Respondents were stratified into two main groups, people with hemophilia (PwH) or their caregivers (CPwH). Results were analyzed using descriptive statistics. Results Of the 364 respondents, 232 were PwH (63.7%) and 132 were CPwH (36.3%). In total, 70.3% of hemophilia patients/caregivers responded that they are kept sufficiently informed about life with hemophilia, with 68.0%, 59.1% and 56.3% of respondents obtaining information from their physicians, patient associations and via digital media (internet and social media), respectively. However, 97.8% of respondents expressed an interest in additional information, particularly new hemophilia treatment options (62.1%), which in contrast to other topics was indicated most frequently by both patients and caregivers in all six countries. Most frequent difficulties in everyday life with hemophilia were identified as mobility problems (41.8%), unexpected bleeding (38.5%), pain (35.4%), and uncertainty with what they can or cannot do (25.0%). During the 2020 COVID-19 pandemic, 52.5% of respondents reported that they did not experience any major change in daily living with hemophilia. Conclusion Based on our Central European survey, hemophilia mostly affects peoples’ lives by causing mobility difficulties, unexpected bleeding, pain and uncertainty in daily activities. Although the majority of respondents reported being educated about hemophilia, most PwH and CPwH respondents sought additional information, highlighting the need for continuous personalized patient education to cope with present challenges.

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