Analysis of haemophilia case information of Shandong Province in China: Data from 2010 to 2017

Kang, Peipei; Fang, Yunhai; Cheng, Yan; Zhang, Xueqin; Jie, Wang; Li, Huiling; Zhang, Xinsheng

doi:10.1111/hae.13724

Cited by 6 publications

(7 citation statements)

References 10 publications

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“…In some countries, the annual prevalence of congenital bleeding disorders has increased in recent decades. 4 15 16 17 18 19 20 The KHF also reported that the number of registered patients had tripled. While the total Korean population increased by 12%, the KHF data showed a 200% increase in hemophilia from 997 patients in 1991 to 2,148 in 2012.…”

Section: Discussionmentioning

confidence: 97%

Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study

et al. 2020

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Background: Except for data in the Korea Hemophilia Foundation Registry, little is known of the epidemiology of congenital bleeding disorders in Korea. Methods: Data were obtained from the Korean Health Insurance Review and Assessment Service (HIRA) database. Results: From 2010 to 2015, there were 2,029 patients with congenital bleeding disorders in the Korean HIRA database: 38% (n = 775) of these patients had hemophilia A (HA), 25% (n = 517) had von Willebrand disease (vWD), 7% (n = 132) had hemophilia B (HB), and 25% (n = 513) had less common factor deficiencies. The estimated age-standardized incidence rate (ASR) of HA and HB was 1.78-3.15/100,000 and 0.31-0.51/100,000, respectively. That of vWD was 1.38-1.95/100,000. The estimated ASR of HA showed increase over time though the number of new patients did not increase. Most patients with congenital bleeding disorders were younger than 19 years old (47.8%), and most were registered in Gyeonggi (22.1%) and Seoul (19.2%). Conclusion: This is the first nationwide population-based study of congenital bleeding disorders in Korea. This study provides data that will enable more accurate estimations of patients with vWD. This information will help advance the comprehensive care of congenital bleeding disorders. We need to continue to obtain more detailed information on patients to improve the management of these diseases.

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Section: Discussionmentioning

confidence: 97%

Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study

et al. 2020

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“…[14] However, the c.1232G>C mutation detected in this study has not been reported. [8–23] To ascertain whether this mutation is a pathogenic mutation in this HB family, we carried out the protein phenotypic analysis of this mutation. The factor IX protein contains seven regions including signal peptide, prepeptide, Gla domain, epidermal growth factor-like domains (EGF1 and EGF2), activated peptide and SPD.…”

Section: Discussionmentioning

confidence: 99%

Genetic analysis of a hemophilia B family with a novel F9 gene mutation

Li³

et al. 2019

Medicine

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At present, there are no effective methods for the treatment of hemophilia B, and it has high mortality and disability. Therefore, it is very important for the carriers to carry out genetic counseling and make prenatal diagnosis. In this study, we made gene and prenatal diagnoses in a family with a novel F9 gene mutation, and report a novel F9 gene mutation. All exon sequences and flanking sequences of F9 gene were analyzed by Sanger sequencing in the proband; and then according to the F9 gene mutation in the proband, the F9 gene sequencing was performed on the family members. Based on the above results, the pathogenic mutation in F9 gene was finally identified, which was used for prenatal diagnosis. Sanger sequencing revealed c.1232G>C [p.Ser411Thr] mutation in F9 gene in the proband. c.1232G>C heterozygous mutation was also found in the proband's mother and grandmother, but male family members without hemophilia B had no this mutation. The analyses of amniotic fluid samples indicated positive sex-determining region on Y chromosome ( SRY ), and no c.1232G>C [p.Ser411Thr] mutation in F9 gene. We identified a pathogenic mutation in F9 gene in the family, made a prenatal diagnosis for the female carrier and reported a novel F9 gene mutation.

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“…Shandong is the northernmost province in eastern China with more than 100 million residents. According to Haemophilia Treatment Centre Collaboration Network of China (HTCCNC) (2007-2019), there were approximately 17,779 patients with haemophilia A in China in 2020, among which 2,256 patients were from Shandong province, ranking the rst [28,29]. This explained the reason why we took Shandong province as the setting to explore the experienced or perceived barriers of patients and their caregivers to prophylaxis treatment.…”

Section: Study Setting /Participants Recruitmentioning

confidence: 99%

“…Our research team collaborated with the Shandong Haemophilia Treatment Center (SHTC) which is one of the six core centers of HTCCNC. SHTC was established in 2001 under the supervision of the Department of Health of Shandong Province [29,30]. Belonging to the National Haemophilia Registry System, SHTC established a provincial haemophilia registry system to collect disease-related information from patients with haemophilia and other rare bleeding disorders since 2009.…”

Section: Study Setting /Participants Recruitmentioning

confidence: 99%

Barriers to prophylaxis treatment among haemophilia A patients and caregivers in Shandong Province, China: a descriptive qualitative study

Liu

Feng

Fang

et al. 2022

Preprint

Self Cite

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Background: As one of the most common rare diseases, haemophilia A poses a great burden to human society. Prophylaxis treatment is considered optimal for patients to prevent uncontrolled bleeding and reduce severity of injury. However, little is known about the use of prophylaxis treatment among haemophilia A patients in China, especially barriers that predispose them to low or non-adherence. Objective: In this study, we explored barriers that were experienced or perceived by haemophilia A patients and their caregivers who have initiated prophylaxis treatment in Shandong province in China. Methods: Primarily inspired by the AAAQ framework, we conducted 19 one-to-one interviews and 3 focus groups (18 interviewees in total). Data were analysed using a descriptive phenomenology approach and further discussed through inductive analysis. Results: Results revealed that haemophilia A patients and their caregivers struggled with nine intertwined barriers, including lack of health services for early diagnosis; inadequate supportive services for prophylaxis treatment in primary care; difficulties to obtain FⅧ concentrate at locals; financial concern associated with prophylaxis treatment; insufficient information regarding self-infusion and disease management; lack of a clarified role of primary care nurses as an acceptable care provider for infusing FVIII concentrate; lack of trust for newly developed techniques of infusion except gene therapy; safety concern associated with different product types; and poor user experience of domestic-produced infusion devices. Resulted from an inductive analysis, three clusters of underlying causes of barriers were observed: poor primary health care, inadequate social support, and failed to be patient-centred, which meanwhile highlighted opportunities for service providers and policy makers to better target and proactively design interventions towards improving prophylaxis treatment adherence in patients with haemophilia A. Conclusions: Although this study was conducted in the Chinese context, the findings still could serve as a good reference for other nations when actions are needed to protect patients affected by rare diseases.

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Analysis of haemophilia case information of Shandong Province in China: Data from 2010 to 2017

Cited by 6 publications

References 10 publications

Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study

Epidemiology of Congenital Bleeding Disorders: a Nationwide Population-based Korean Study

Genetic analysis of a hemophilia B family with a novel F9 gene mutation

Barriers to prophylaxis treatment among haemophilia A patients and caregivers in Shandong Province, China: a descriptive qualitative study

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