Evidence map›Paper›PMID 39085840›Full record

ArticleOrphanet journal of rare diseases2024

DAHEAN: A Danish nationwide study ensuring quality assurance through real-world data for suspected hereditary anemia patients.

Andreas Glenthøj, Andreas Ørslev Rasmussen, Selma Kofoed Bendtsen, Henrik Hasle, Marianne Hoffmann, Klaus Rieneck, Morten Hanefeld Dziegiel, Lene Dissing Sjö, Henrik Frederiksen, Dennis Lund Hansen and 14 more

Abstract read
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

24 authors.

Andreas GlenthøjDanish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen University Hospital, Rigshospitalet Blegdamsvej 9, Copenhagen,, DK-2100, Denmark. andreas.glenthoej@regionh.dk.ORCID 0000-0003-2082-0738
Andreas Ørslev RasmussenCenter for Genomic Medicine, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Selma Kofoed BendtsenDanish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen University Hospital, Rigshospitalet Blegdamsvej 9, Copenhagen,, DK-2100, Denmark.
Henrik HasleDepartment of Pediatrics, Aarhus University Hospital, Aarhus, Denmark.
Marianne HoffmannDepartment of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Klaus RieneckDepartment of Clinical Immunology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Morten Hanefeld DziegielDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Lene Dissing SjöDepartment of Pathology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Henrik FrederiksenDepartment of Hematology, Odense University Hospital, Odense, Denmark.
Dennis Lund HansenDepartment of Hematology, Odense University Hospital, Odense, Denmark.
Daniel El FassiDanish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen University Hospital, Rigshospitalet Blegdamsvej 9, Copenhagen,, DK-2100, Denmark.
Mathias RatheDepartment of Clinical Research, University of Southern Denmark, Odense, Denmark.
Peter-Diedrich Matthias JensenDepartment of Hematology, Aalborg University Hospital, Aalborg, Denmark.
Anne Winther-LarsenDepartment of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark.
Christian NielsenDepartment of Clinical Immunology, Odense University Hospital, Odense, Denmark.
Marianne OlsenDepartment of Pediatrics and Adolescent Medicine, Aalborg University Hospital, Aalborg, Denmark.
Nina ToftDanish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen University Hospital, Rigshospitalet Blegdamsvej 9, Copenhagen,, DK-2100, Denmark.
Mads Okkels Birk LorenzenDepartment of Hematology, Aarhus University Hospital, Aarhus, Denmark.
Lise Heilmann JensenDepartment of Pediatrics, Zealand University Hospital, Roskilde, Denmark.
Sif GudbrandsdottirDepartment of Hematology, Region Zealand University, Roskilde Hospital, Roskilde, Denmark.
Jens HelbyDanish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen University Hospital, Rigshospitalet Blegdamsvej 9, Copenhagen,, DK-2100, Denmark.
Maria RossingDepartment of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Richard van WijkCentral Diagnostic Laboratory, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.
Jesper PetersenDanish Red Blood Cell Center, Department of Hematology, Copenhagen University Hospital - Rigshospitalet, Copenhagen University Hospital, Rigshospitalet Blegdamsvej 9, Copenhagen,, DK-2100, Denmark.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundHereditary anemias are a group of genetic diseases prevalent worldwide and pose a significant health burden on patients and societies. The clinical phenotype of hereditary anemias varies from compensated hemolysis to life-threatening anemia. They can be roughly categorized into three broad categories: hemoglobinopathies, membranopathies, and enzymopathies. Traditional therapeutic approaches like blood transfusions, iron chelation, and splenectomy are witnessing a paradigm shift with the advent of targeted treatments. However, access to these treatments remains limited due to lacking or imprecise diagnoses. The primary objective of the study is to establish accurate diagnoses for patients with hereditary anemias, enabling optimal management. As a secondary objective, the study aims to enhance our diagnostic capabilities.

resultsThe DAHEAN study is a nationwide cohort study that collects advanced phenotypic and genotypic data from patients suspected of having hereditary anemias from all pediatric and hematological departments in Denmark. The study deliberates monthly by a multidisciplinary anemia board involving experts from across Denmark. So far, fifty-seven patients have been thoroughly evaluated, and several have been given diagnoses not before seen in Denmark.

conclusionsThe DAHEAN study and infrastructure harness recent advancements in diagnostic tools to offer precise diagnoses and improved management strategies for patients with hereditary anemias.

Indexed as

AnemiaChildCohort StudiesDenmarkFemaleHumansMaleQuality Assurance, Health CareEnzymopathiesHemoglobinopathiesHereditary anemiaMembranopathiesPrecision diagnosticsWhole genome sequencing

Identifiers

PMID39085840
PMCPMC11290079

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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.