ArticleOrphanet journal of rare diseases2019
Haemophilia A: health and economic burden of a rare disease in Portugal.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review of studies that estimated the burden of chronic non-communicable rare diseases using disability-adjusted life years.Orphanet journal of rare diseases · 2024Pooled it
- Crohn's Disease Complicated by Undiagnosed Hemophilia A: A Case of Recurrent Massive Lower Gastrointestinal Bleeding.ACG case reports journal · 2026Article
- Clinical, humanistic, and economic burden of haemophilia A in China: findings from a real-world survey.Orphanet journal of rare diseases · 2025Article
- Economic Burden of Haemophilia from a Societal Perspective: A Scoping Review.PharmacoEconomics - open · 2025Review
- Disability-Adjusted Life Years (DALYs) due to Breast, Cervical, Colorectal and Oral Cancers in Taiwan Regions.Cancer medicine · 2025Article
- Health-related quality of life and its associated factors among hemophilia patients: experience from Ethiopian Hemophilia Treatment Centre.Journal of pharmaceutical health care and sciences · 2024Article
- Emicizumab prophylaxis for people with hemophilia A: Waste estimation and the Brazilian perspective.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2023Article
- Burden of Disease and Cost of Illness of Inflammatory Bowel Diseases in Portugal.GE Portuguese journal of gastroenterology · 2023Article
- Cost-effectiveness of recombinant factor VIII Fc versus emicizumab for prophylaxis in adults and adolescents with haemophilia A without inhibitors in the UK.European journal of haematology · 2023Article
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- The impact of improving haemophilia A management within the Spanish National Healthcare System: a social return on investment analysis.BMC health services research · 2022Article
- Valuing the "Burden" and Impact of Rare Diseases: A Scoping Review.Frontiers in pharmacology · 2022Article
- Reflections on the Importance of Cost of Illness Analysis in Rare Diseases: A Proposal.International journal of environmental research and public health · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHaemophilia A is a hereditary bleeding disorder, which has been considered rare and chronic. The burden of this disease in Portugal remains unknown. The aim of this study was to estimate the annualized cost and health burden of haemophilia A in Portugal.
methodsData were extracted from a Portuguese expert panel, from official data and national literature. Annual costs were calculated from the perspective of the society including direct and indirect costs. Unitary costs were extracted from 2017 national official sources and are expressed in euros. Health burden was expressed in disability adjusted life years (DALYs) based on incidence and quality of life questionnaires. Estimates are presented for the overall population and stratified by severity, age group (< 18 years vs. adults) and inhibitor status.
resultsThe yearly average cost per patient is estimated to range from €39,654/patient without inhibitors and €302,189/patient with inhibitors, representing a 7.6 fold difference. Amongst patients without inhibitors, the annual average cost was €401 in mild, €5327 in moderate and €85,805 in severe disease. Average cost per child and adult is €72,287 and €51,737, respectively. Direct costs represent approximately 95% of all costs, of which almost the totality accounts for clotting factor replacement therapy and bypassing agents. The total annual cost of haemophilia A for the Portuguese society was estimated to be €42,66 million, one third of which was related to the treatment of patients with inhibitors. It is estimated that haemophilia A is responsible for 3878 DALYs in Portugal (497 DALYs in mild, 524 DALYs in moderate, 2031 DALYs in severe patients without inhibitors and 784 DALYs in patients with inhibitors) for the cohort of 2017 (750 patients) or 5.2 DALY/patient during lifetime.
conclusionsDespite being rare, the economic and health burden of haemophilia A is remarkable. The main cost driver is clotting factor replacement therapy. Moreover, haemophilia A is more costly in children than in adults and rises exponentially with disease severity.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.