Optimizing Haemophilia Care in Resource-Limited Countries: Current Challenges and Future Prospects

Ndoumba-Mintya, Annick; Diallo, Yacouba Lazare; Tayou, Tagny C; Mbanya, Dora

doi:10.2147/jbm.s291536

Cited by 16 publications

(12 citation statements)

References 12 publications

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“…4,5,9 These therapies are costly however and patients in developing countries typically receive low-dose prophylactic regimens (10-15 IU/kg, 2-3 times a week) 2 only when available given limited access to safe therapies, specialised centres that provide comprehensive care, and limited budget allowance for factor concentrates. 35,36 More recently, non-factor replacement therapies 37 including emicizumab, a bispecific monoclonal antibody, led to greater patient satisfaction and reduced prophylactic treatment burden given its infrequent, subcutaneous administration in patients with factor VIII deficiency with or without an inhibitor. 38 Despite the institution of individualised, high-dose, and early prophylactic regimens, haemophilic arthropathy continues to occur.…”

Section: Prevention and Management Of Haemophilic Arthropathymentioning

confidence: 99%

“…Primary prophylaxis started before any joint disease is documented, usually in children aged 2 years and younger, can be achieved using haemostatic factor replacement therapy: plasma derived, standard or extended half‐life products, and bypassing agents for inhibitor patients 4,5,9 . These therapies are costly however and patients in developing countries typically receive low‐dose prophylactic regimens (10–15 IU/kg, 2–3 times a week) 2 only when available given limited access to safe therapies, specialised centres that provide comprehensive care, and limited budget allowance for factor concentrates 35,36 …”

Section: Prevention and Management Of Haemophilic Arthropathymentioning

confidence: 99%

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Haemophilic arthropathy: Diagnosis, management, and aging patient considerations

Bakeer,

Saied,

Gavrilovski

et al. 2024

Haemophilia

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Gene therapy and universal use of safer, more effective, and personalised prophylactic regimens (factor, and nonfactor) are expected to prevent joint bleeding and promote joint health in persons with haemophilia (PwH). Growing evidence suggests that subclinical bleeding, with active and inactive synovial proliferation, continues and haemophilic arthropathy remains a major morbidity in PwH despite early institution of joint prophylaxis. Joint health assessment is evolving with physical examination scores complementing imaging scores. Point‐of‐care ultrasound is emerging as a safe, cost‐effective, and readily available tool for acute determination of musculoskeletal abnormalities, serial evaluation of joints for sonographic markers of haemophilic arthropathy, and in providing objective insight into the efficacy of new therapies. In acute haemarthrosis, arthrocentesis expedites recovery and prevent the vicious cycle of bleed‐synovitis‐rebleed. When synovial proliferation develops, a multidisciplinary team approach is critical with haematology, orthopaedics, and physiotherapy involvement. Synovectomy is considered for patients with chronic synovitis that fail conservative management. Non‐surgical and minimally invasive procedures should always be offered and considered first. Careful patient selection, screening and early intervention increase the success of these interventions in reducing bleeding, pain, and improving joint function and quality of life. Chemical synovectomy is practical in developing countries, but radioactive synovectomy appears to be more effective. When surgical synovectomy is considered, arthroscopic/minimally invasive approach should be attempted first. In advanced haemophilic arthropathy, joint replacement and arthrodesis can be considered. While excited about the future of haemophilia management, navigating musculoskeletal challenges in the aging haemophilia population is equally important.

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Section: Prevention and Management Of Haemophilic Arthropathymentioning

confidence: 99%

Section: Prevention and Management Of Haemophilic Arthropathymentioning

confidence: 99%

Haemophilic arthropathy: Diagnosis, management, and aging patient considerations

Bakeer,

Saied,

Gavrilovski

et al. 2024

Haemophilia

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“…However, PWH in developing countries face many challenges and barriers to obtaining adequate treatment, and may thus suffer from different degrees of chronic damage to the musculoskeletal system, resulting in severe handicaps and even death. 6 , 7 Other complications, such as the development of inhibitory antibodies, further increase the complexity and costs of managing the disease. 8 Available data from medium- and high-income countries show life-expectancy disadvantages of people with HA and HB of 30% and 24%, respectively, compared with the rest of the population, with a much greater disadvantage in countries with more limited access to treatments for hemophilia.…”

Section: Introductionmentioning

confidence: 99%

Exploring Female Relatives of Patients with Hemophilia’ Awareness, Attitudes, and Understanding Towards Genetic Testing

Zhao,

Geng,

et al. 2024

JMDH

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Purpose A better understanding of the factors that influence engagement is needed to provide a reference for conducting genetic testing in female relatives of patients with hemophilia (PWH). We therefore determined the perceptions and understanding of genetic testing among female relatives of PWH in China. Methods We carried out a qualitative study using in-depth, semi-structured interviews with 11 female relatives of PWH in Shanxi Province, China. The resulting data were analyzed using thematic analyses. Results This study extracted four topics: uncertainty about carrier genetic status; limited understanding of genetic testing; coexistence of positive and negative coping; and multi-aspect demands. Conclusion Healthcare professionals should provide personalized and multidimensional health education and comprehensive decision-making support to female relatives of PWH, to enhance their motivation and willingness to undergo genetic testing. It is also important to actively improve relevant policies, strengthen the genetic testing service system, and promote the popularization of genetic testing in female relatives of PWH.

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“…The World Federation of Hemophilia (WFH) has estimated there are approximately 815,100 cases of hemophilia worldwide. Of these, 347,026 have been confirmed by diagnosis, of which 276,900 cases have been classified as severe hemophilia [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

In vivo LNP-CRISPR Approaches for the Treatment of Hemophilia

Lee,

Han

2024

Mol Diagn Ther

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Hemophilia is a genetic disorder that is caused by mutations in coagulation factor VIII (hemophilia A) or IX (hemophilia B) genes resulting in blood clotting disorders. Despite advances in therapies, such as recombinant proteins and products with extended half-lives, the treatment of hemophilia still faces two major limitations: the short duration of therapeutic effect and production of neutralizing antibodies against clotting factors (inhibitor). To overcome these limitations, new hemophilia treatment strategies have been established such as gene therapy, bispecific antibody, and rebalancing therapy. Although these strategies have shown promising results, it is difficult to achieve a permanent therapeutic effect. Advances in the clustered regularly interspaced short palindromic repeat (CRISPR) technology have allowed sustainable treatment by correcting mutated genes. Since genome editing generates irreversible changes in host genome, safety must be ensured by delivering target organs. Therefore, the delivery tool of the CRISPR system is crucial for safe, accurate, and efficient genome editing. Recently, non-viral vector lipid nanoparticles (LNPs) have emerged as safer tools for delivering CRISPR systems than other viral vectors. Several previous hemophilia pre-clinical studies using LNP-CRISPR showed that sufficient and sustainable therapeutic effects, which means that LNP-CRISPR-mediated genome-editing therapy can be a valid option for the treatment of hemophilia. In this paper, we summarize the latest advancements in the successful treatment of hemophilia and the potential of CRISPR-mediated genome-editing therapy using LNPs.

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Optimizing Haemophilia Care in Resource-Limited Countries: Current Challenges and Future Prospects

Cited by 16 publications

References 12 publications

Haemophilic arthropathy: Diagnosis, management, and aging patient considerations

Haemophilic arthropathy: Diagnosis, management, and aging patient considerations

Exploring Female Relatives of Patients with Hemophilia’ Awareness, Attitudes, and Understanding Towards Genetic Testing

In vivo LNP-CRISPR Approaches for the Treatment of Hemophilia

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