Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males

Iorio, Alfonso; Stonebraker, Jeffrey S.; Chambost, Hérvè; Makris, Michael; Coffin, Donna; Herr, Christine; Germini, Federico

doi:10.7326/m19-1208

Cited by 303 publications

(290 citation statements)

References 32 publications

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“…It has been generally accepted that hemophilia B accounts for around 20% of all hemophilia patients, and the WFH Global Survey 2017 indeed demonstrated that 16% of all registered patients with hemophilia were people with hemophilia B . This is in line with the results of a study using national registries that estimated a prevalence of 15.1 and 3.5 cases per 100 000 males of nonsevere hemophilia A and B, respectively . However, our research group recently identified a gradient in the distribution of nonsevere hemophilia A and B across Europe with a higher proportion of nonsevere hemophilia B (15%‐20%) compared to hemophilia A in the northern European countries, and a lower prevalence (10%) in the southern European countries (unpublished data on file with the authors).…”

Section: Introductionsupporting

confidence: 89%

“…A recent study that used registry data from 6 high‐income countries estimated a worldwide prevalence of 29.6 persons with hemophilia per 100 000 males for both hemophilia A and B of all severities. These numbers correspond to an expected total number of 1 125 000 patients with hemophilia globally, with 707 000 of them affected by nonsevere hemophilia . These numbers are in contrast to the real‐world numbers reported by the World Federation of Hemophilia (WFH).…”

Section: Introductionmentioning

confidence: 70%

“…These numbers correspond to an expected total number of 1 125 000 patients with hemophilia globally, with 707 000 of them affected by nonsevere hemophilia. 3 These numbers are in contrast to the real-world numbers reported by the World Federation of Hemophilia (WFH). According to their 2017 Global Survey that included data from 117 countries, 64 534 nonsevere hemophilia patients (39 292 mild, 25 242 moderate) have been registered around the world.…”

Section: Epidemiologymentioning

confidence: 87%

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Hemophilia management: Huge impact of a tiny difference

Kloosterman

Zwagemaker

Abdi

et al. 2020

Research and Practice in Thrombosis and Haemostasis

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Hemophilia A and B are inherited X‐linked disorders of hemostasis, associated with an increased bleeding tendency. Patients with severe hemophilia have undetectable clotting factor levels and experience spontaneous bleeds. In patients with nonsevere hemophilia, the clotting factor levels are 2% to 40% of normal and bleeds predominantly occur after provocative events such as trauma and surgery. Despite this milder phenotype, patients with nonsevere hemophilia may suffer from considerable morbidity and have an increased mortality risk. However, many aspects of the course of disease and treatment remain unclear. Information on the factors influencing interindividual differences in bleeding phenotype is lacking, and misdiagnosis may occur due to assay discrepancies in the diagnostic workup. Desmopressin is the preferred treatment modality, but some patients and indications require treatment with clotting factor concentrates. This may elicit inhibitor formation, which is associated with an increased burden of disease and a higher mortality rate. It has been found that patients with nonsevere hemophilia A carry a lifelong risk for this serious complication. In this review, we provide an overview of the current knowledge of the diagnosis and management of nonsevere hemophilia. A report of science presented at the International Society on Thrombosis and Haemostasis 2019 Annual Congress is also provided.

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Section: Introductionsupporting

confidence: 89%

Section: Introductionmentioning

confidence: 70%

Section: Epidemiologymentioning

confidence: 87%

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Hemophilia management: Huge impact of a tiny difference

Kloosterman

Zwagemaker

Abdi

et al. 2020

Research and Practice in Thrombosis and Haemostasis

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“…A recent paper reported prevalence and incidence rates based on established registries in six countries that could be used to estimate the potential burden of haemophilia in other countries 13 . For ease of comparison, in Table 4 we have converted our incidence measures to the equivalent prevalence at birth measures used in the international study.…”

Section: Discussionmentioning

confidence: 99%

Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres

et al. 2020

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Haemophilia. 2020;26:487-493.wileyonlinelibrary.com/journal/hae | 487 | INTRODUC TI ONHaemophilia is an X-linked, inherited disorder that results from mutations in the genes that code for one of two proteins necessary for normal blood clotting, factor VIII (haemophilia A) or factor IX (haemophilia B). Haemophilia A (HA) is more common than haemophilia B (HB); however, both disorders primarily affect males and result in bleeding in organs, tissues and joints in response to trauma and Introduction: Estimates of the size and characteristics of the US haemophilia population are needed for healthcare planning and resource needs assessment. A network of comprehensive haemophilia treatment centres (HTCs) located throughout the United States receives federal support for diagnosis and management of haemophilia and other rare bleeding disorders.Aim: Estimate the incidence and prevalence of haemophilia among US males using the HTC network. Methods:During the period 2012-2018, de-identified surveillance data were collected on all males who visited an HTC that included year of birth, gender, race, Hispanic ethnicity, residence zip code, haemophilia type and severity. Data from all patients were used to calculate period prevalence by haemophilia type, severity and state of residence. Data from a subset of patients born 1995-2014 were used to estimate incidence rates over the 20-year period.

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“…National hemophilia registries already exist in most European countries [3,4] and data on hemophilia incidence are collected in many countries worldwide [5]. Hemophilia is a rare disease with an expected number of 1,125,000 people with hemophilia (PWH) worldwide (418,000 of whom with severe hemophilia [6]) many of whom may remain undiagnosed [5] and therefore not be included in registries. Thus, data from one country may not be sufficient to obtain conclusive results.…”

Section: Introductionmentioning

confidence: 99%

The German Hemophilia Registry: Growing with Its Tasks

Duda

Hesse

Haschberger

et al. 2020

JCM

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Hemophilia is a rare heredity bleeding disorder that requires treatment for life. While few therapeutic options were available in the past, multiple recent breakthroughs have fundamentally altered and diversified hemophilia therapy, with even more new therapeutic options forthcoming. These changes are mirrored by significant regulatory and legal changes, which have redefined the role of hemophilia registries in the European Union (EU). This dual paradigm shift poses new regulatory, scientific but also structural requirements for hemophilia registries. The aim of this manuscript is to enumerate these significant challenges and to demonstrate their incorporation into the redesign of the German Hemophilia Registry (Deutsches Hämophilieregister, dhr). To identify the spectrum of hemophilia therapies and the degree of regulatory changes, a horizon screening was performed. Consequently, a core dataset for the dhr was defined by harmonization with regulatory guidelines as well as other hemophilia registries and by heeding the needs of different stakeholders (patients, clinicians, regulators, and scientists). Based on this information, a new registry structure was established, which is optimized for capturing data on new and established hemophilia therapies in a changing therapeutic and regulatory landscape

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Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males

Cited by 303 publications

References 32 publications

Hemophilia management: Huge impact of a tiny difference

Hemophilia management: Huge impact of a tiny difference

Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres

The German Hemophilia Registry: Growing with Its Tasks

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