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Special Issue "New Insights in the Diagnosis and Treatment of Hemophilia"

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Hematology".

Deadline for manuscript submissions: closed (1 March 2023) | Viewed by 2684

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Special Issue Editors

Dr. Michael B. Nichol

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Guest Editor

Sol Price School of Public Policy; University of Southern California, Los Angeles, CA 90089, USA
Interests: hemophilia; prophylaxis; gene therapy; burden of illness; quality of life; patient reported outcomes

Dr. Jonathan C. Roberts

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Co-Guest Editor

1. Bleeding and Clotting Disorders Institute, Peoria, IL, USA
2. Department of Pediatrics, University of Illinois College of Medicine, Peoria, IL, USA
Interests: hemophilia; Von Willebrand disease; coagulation laboratory testing; hemostasis; thrombosis; platelet disorders; patient centered outcome measures; anticoagulation

Special Issue Information

Dear Colleagues,

Haemophilia diagnosis and treatment has evolved significantly in the last twenty years. Increasing attention is being paid to the burden of illness, quality of life, and treatment preferences for patients with this disorder. While principal outcomes frequently measure bleeds, joint arthropathy, and pain, other effects may be important to patients. Most importantly, there is recognition that this disorder has patients across the globe, and international efforts have advocated for broader treatment, and treatment options.

With the development of a variety of new treatments, it is essential that research on treatment outcomes be developed and assessed. In addition to clinical trials, observational studies can provide insight into treatment effects and predictors of success. The focus of this special issue is to report on new areas of treatment, new measurements being used to identify treatment effects, and treatment outcomes. The issue will also consider the potential impact of treatments presently under development, and how clinicians may adopt them.

Dr. Michael B. Nichol
Dr. Jonathan C. Roberts
Guest Editors

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. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly 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
prophylaxis
gene therapy
burden of illness
quality of life
patient reported outcomes

Published Papers (4 papers)

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Research

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Open AccessArticle

Qualification of Hemophilia Treatment Centers to Enable Multi-Center Studies of Gene Expression Signatures in Blood Cells from Pediatric Patients

Birgit M. Reipert

Christoph J. Hofbauer

and

J. Clin. Med. 2023, 12(5), 2080; https://doi.org/10.3390/jcm12052080 - 06 Mar 2023

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Abstract

Hemophilia A is a rare congenital bleeding disorder caused by a deficiency of functionally active coagulation factor VIII (FVIII). Most patients with the severe form of the disease require FVIII replacement therapies, which are often associated with the development of neutralizing antibodies against FVIII. Why some patients develop neutralizing antibodies while others do not is not fully understood. Previously, we could demonstrate that the analysis of FVIII-induced gene expression signatures in peripheral blood mononuclear cells (PBMC) obtained from patients exposed to FVIII replacement therapies provides novel insights into underlying immune mechanisms regulating the development of different populations of FVIII-specific antibodies. The aim of the study described in this manuscript was the development of training and qualification test procedures to enable local operators in different European and US clinical Hemophilia Treatment Centers (HTC) to produce reliable and valid data for antigen-induced gene expression signatures in PBMC obtained from small blood volumes. For this purpose, we used the model antigen Cytomegalovirus (CMV) phosphoprotein (pp) 65. We trained and qualified 39 local HTC operators from 15 clinical sites in Europe and the US, of whom 31 operators passed the qualification at first attempt, and eight operators passed at the second attempt. Full article

(This article belongs to the Special Issue New Insights in the Diagnosis and Treatment of Hemophilia)

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Open AccessArticle

A Retrospective Analysis of the American Thrombosis and Hemostasis Network Dataset Describing Outcomes of Dental Extractions in Persons with Hemophilia

and

J. Clin. Med. 2023, 12(5), 1839; https://doi.org/10.3390/jcm12051839 - 24 Feb 2023

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Abstract

Introduction: dental extractions (DEs) in persons with hemophilia A or B (PWH-A or PWH-B) are often associated with bleeding and needing hemostatic therapies (HTs). Aim: to analyze the American Thrombosis and Hemostasis Network (ATHN) dataset (ATHNdataset) to assess trends, uses and impacts of HT on bleeding outcomes following DEs. Methods: PWH seen at ATHN affiliates who underwent DEs and opted to share their data with the ATHNdataset between 2013–2019 were identified. The type of DEs, use of HT and bleeding outcomes were assessed. Results: Among 19,048 PWH ≥2 years of age, 1157 underwent 1301 episodes of DE. Those on prophylaxis experienced a nonsignificant reduction in dental bleeding episodes. Standard half-life factor concentrates were used more often than extended half-life products. PWHA were more likely to undergo DE in the first 30 years of life. Those with severe hemophilia were less likely to undergo DE than those with a mild disease (OR: 0.83; 95% CI: 0.72–0.95). PWH with inhibitors had statistically significantly increased odds of dental bleeding (OR: 2.09, 95% CI; 1.21–3.63). Conclusion: our study showed that persons with mild hemophilia and younger age were more likely to undergo DE; the presence of inhibitors increased the likelihood of bleeding, while those with prophylaxis and receiving HT experienced a non-statistically significant reduction in bleeding. Full article

(This article belongs to the Special Issue New Insights in the Diagnosis and Treatment of Hemophilia)

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Open AccessArticle

The Profile of Markers of Bone Turnover, Inflammation and Extracellular Neutrophil Traps on Bone Mass in Haemophilia and the Development of Haemophilic Arthropathy

and

J. Clin. Med. 2022, 11(16), 4711; https://doi.org/10.3390/jcm11164711 - 12 Aug 2022

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Abstract

Background: The aim of the study is to evaluate selected biomarkers of bone turnover, inflammation, neutrophil trap and factors predisposing haemophiliacs to bone loss, and to analyse their relationship with clinical features, treatment and complications. Methods: The levels of interleukin 6 (IL-6); citrullinated histone (CH3); osteocalcin (BGLAP); bone alkaline phosphatase (BALP); N-terminal procollagen type I propeptide (P1NP); and C-terminal collagen type I telopeptide (C1CP) were examined in 60 patients with haemophilia. Results: The cut-off value for BGLAP is 26.41 ng/mL, and 929.7 pg/mL for CH3. There is a statistically significant difference between BGLAP, BALP, C1CP and CH3 concentrations, depending on the prophylaxis used. The median concentration of BGLAP in patients taking the factor on demand is 28.0 ng/mL, BALP 322.5 U/L, C1CP 191.2 ng/mL and CH3 1114.4 pg/mL. In patients taking recombinant coagulation factor VIII/IX as prophylaxis of bleeding, the median BGLAP concentrations are 35.9 ng/mL, BALP 280.9 U/L, C1CP 161.6 ng/mL and CH3 952.5 pg/mL. BGLAP and BALP concentrations are dependent on the development of haemophilic arthropathic. Conclusions: The concentrations of selected markers of bone turnover and NETs may help to identify patients at particular risk of developing haemophilic arthropathy and bone metabolic turnover abnormalities. Full article

(This article belongs to the Special Issue New Insights in the Diagnosis and Treatment of Hemophilia)

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Review

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Open AccessReview

Radiosynovectomy for the Treatment of Chronic Hemophilic Synovitis: An Old Technique, but Still Very Effective

Emerito Carlos Rodriguez-Merchan

Hortensia De la Corte-Rodriguez

Maria Teresa Alvarez-Roman

Primitivo Gomez-Cardero

and

Victor Jimenez-Yuste

J. Clin. Med. 2022, 11(24), 7475; https://doi.org/10.3390/jcm11247475 - 16 Dec 2022

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Abstract

A radiosynovectomy (RS) should be indicated when recurrent articular bleeds related to chronic hemophilia synovitis (CHS) exist, established by clinical examination, and confirmed by imaging techniques that cannot be constrained with hematological prophylaxis. RS can be performed at any point in life, mainly in adolescents (>13–14 years) and adults. Intraarticular injection (IAI) of a radioactive material in children might be arduous since we need child collaboration which might include general anesthesia. RS is our initial option for management of CHS. For the knee joint we prescribe Yttrium-90, while for the elbow and ankle we prescribe Rhenium-186 (1 to 3 IAIs every 6 months). The procedure is greatly cost efficient when compared to surgical synovectomy. Chemical synovectomy with rifampicin has been reported to be efficacious, inexpensive, simple, and especially practical in developing countries where radioactive materials are not easily available. Rifampicin seems to be more efficacious when it is utilized in small joints (elbows and ankles), than when utilized in bigger ones (knees). When RS and/or chemical synovectomy fail, arthroscopic synovectomy (or open synovectomy in some cases) should be indicated. For us, surgery must be performed after the failure of 3 RSs with 6-month interims. RS is an effective and minimally invasive intervention for treatment of repeated articular bleeds due to CHS. Although it has been published that the risk of cancer does not increase, and that the amount of radioactive material used in RS is insignificant, the issue of chromosomal and/or deoxyribonucleic acid (DNA) changes remains a concern and continued surveillance is critical. As child and adulthood prophylaxis becomes more global, RS might become obsolete in the long-term. Full article

(This article belongs to the Special Issue New Insights in the Diagnosis and Treatment of Hemophilia)

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