Hemophilia

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: 22 November 2024 | Viewed by 1293

Special Issue Editor


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Guest Editor
Assistant Professor of Hematology, Aristotle University of Thessaloniki, 56403 Thessaloniki, Greece
Interests: hematology; complement; endothelial injury syndromes
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

We invite medical professionals and researchers to submit articles for a special issue focused on the most recent developments in the field of hemophilia. This comprehensive collection aims to shed light on novel insights, cutting-edge treatments, and multidisciplinary approaches that enhance our understanding and management of this complex bleeding disorder.

Hemophilia, characterized by impaired blood clotting due to deficient or dysfunctional clotting factors, presents significant challenges to affected individuals and healthcare providers. This special issue serves as a platform to showcase innovative research spanning genetics, molecular mechanisms, diagnostics, and/or therapeutic approaches.

Contributors are encouraged to explore topics such as gene therapy breakthroughs, personalized treatment strategies, and the role of emerging technologies in addressing the underlying genetic causes.

We envision this special issue as a collaborative resource that not only highlights the progress made in hemophilia research, but also generates new ideas for future directions. By bringing together a diverse array of perspectives and expertise, we aim to facilitate a deeper understanding of hemophilia and ultimately improve the quality of life for those affected by this condition.

Dr. Eleni Gavriilaki
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Life is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hemophilia A-B
  • bleeding disorders
  • coagulation disorders
  • clotting factors
  • hemostasis
  • inherited bleeding disorders
  • hemorrhage
  • replacement therapy
  • gene therapy for hemophilia
  • hemophilia treatment centers
  • hemarthrosis
  • prophylactic treatment
  • joint bleeds
  • hemophilia genetics
  • hemophilia carriers

Published Papers (2 papers)

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Research

13 pages, 244 KiB  
Article
A Retrospective Observational Study of Quality of Life in a Northern Greece Population of People with Haemophilia
by Eleni Moka, Zacharo Ntova, Eleni Gavriilaki, Nikolaos Kotsiou, Sofia Chissan, Theodosia Papadopoulou and Sofia Vakalopoulou
Life 2024, 14(6), 697; https://doi.org/10.3390/life14060697 - 29 May 2024
Viewed by 284
Abstract
Haemophilia presents a significant challenge to the quality of life of affected individuals. Evaluating the health-related quality of life (HRQoL) of people with haemophilia (PwH) provides a valuable mean of assessing their perception of overall care outcomes, while also identifying influential factors across [...] Read more.
Haemophilia presents a significant challenge to the quality of life of affected individuals. Evaluating the health-related quality of life (HRQoL) of people with haemophilia (PwH) provides a valuable mean of assessing their perception of overall care outcomes, while also identifying influential factors across various age and condition severity demographics. This observational retrospective study determined the HRQoL of 100 adult PwH in Northern Greece through comprehensive analysis and interpretation of their HRQoL levels, particularly in domains concerning their physical, emotional, and mental well-being, obtained through the Haem-A-QoL index questionnaire. Disease severity and young age were significantly associated with the administration of prophylactic treatment (84.2% of patients with severe haemophilia and 65.2% of patients aged 18–30). The mean Haem-A-QoL score was 40.11 ± 17.38, with the lowest HRQoL observed in the 46–60 age group (46.16), and the highest in the ≥61 age groups (35.16). Notably, the ‘Sports/Leisure’ and ‘Physical Health’ domains exhibited the highest scores, in contrast to ‘Family Planning’ and ‘Relationships/Sexuality’. Individuals with mild haemophilia recorded the lowest mean score (39.38), while those with a severe condition exhibited the highest (41.23). Age, disease severity, and physical activity emerged as primary determinants significantly affecting HRQoL outcomes. Full article
(This article belongs to the Special Issue Hemophilia)
13 pages, 488 KiB  
Article
Impact of Replacement Therapy on Pregnancy Outcomes in Hemophilia Carriers: A Historical Cohort Study in Saudi Arabia
by Ebtisam Bakhsh
Life 2024, 14(5), 623; https://doi.org/10.3390/life14050623 - 11 May 2024
Viewed by 635
Abstract
This retrospective cohort study evaluates the safety and efficacy of replacement therapy with regard to pregnancy outcomes in hemophilia carriers. Hemophilia carriers face elevated bleeding risks during pregnancy, necessitating meticulous management, including replacement therapy with clotting factors. This research examines the records of [...] Read more.
This retrospective cohort study evaluates the safety and efficacy of replacement therapy with regard to pregnancy outcomes in hemophilia carriers. Hemophilia carriers face elevated bleeding risks during pregnancy, necessitating meticulous management, including replacement therapy with clotting factors. This research examines the records of 64 pregnant hemophilia carriers at King Fahad Medical City, Riyadh, from January 2010 to December 2023, analyzing their demographic details, hemophilia type and severity, replacement therapy specifics, and pregnancy outcomes. The study found that 62.5% of the participants had hemophilia A, with 43.8% categorized as severe. Most subjects (87.5%) received recombinant factor VIII at a median dosage of 30 IU/kg weekly. Adverse pregnancy outcomes included gestational hypertension (15.6%), preterm labor (18.8%), and postpartum hemorrhage (12.5%). The cesarean section rate was 28.1%. Neonatal outcomes were generally favorable, with median birth weights at 3100 g and mean Apgar scores of 8.2 and 9.1 at 1 and 5 min, respectively. Logistic regression analysis revealed no significant association between adverse events and therapy type or dosage, though a trend towards significance was noted with once-weekly administration (p = 0.082). The study concludes that replacement therapy is a viable method for managing hemophilia in pregnant carriers, leading to generally favorable maternal and neonatal outcomes. However, it underscores the importance of individualized treatment plans and close monitoring to effectively manage the risks associated with hemophilia during pregnancy. Full article
(This article belongs to the Special Issue Hemophilia)
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