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

• Published in: Orphanet journal of rare diseases Vol. 19; no. 1; pp. 284 - 11
• Main Authors: Glenthøj, Andreas, Rasmussen, Andreas Ørslev, Bendtsen, Selma Kofoed, Hasle, Henrik, Hoffmann, Marianne, Rieneck, Klaus, Dziegiel, Morten Hanefeld, Sjö, Lene Dissing, Frederiksen, Henrik, Hansen, Dennis Lund, Fassi, Daniel El, Rathe, Mathias, Jensen, Peter-Diedrich Matthias, Winther-Larsen, Anne, Nielsen, Christian, Olsen, Marianne, Toft, Nina, Lorenzen, Mads Okkels Birk, Jensen, Lise Heilmann, Gudbrandsdottir, Sif, Helby, Jens, Rossing, Maria, van Wijk, Richard, Petersen, Jesper
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 31.07.2024; BioMed Central; BMC
• Subjects: Analysis; Anemia; Anemia - diagnosis; Blood transfusion; Care and treatment; Child; Cohort Studies; Denmark; Diagnosis; DNA sequencing; Enzymopathies; Female; Genetic aspects; Genomics; Health aspects; Hemoglobinopathies; Hereditary anemia; Humans; Male; Membranopathies; Nucleotide sequencing; Patient outcomes; Precision diagnostics; Quality Assurance, Health Care; Quality control; Strategic planning (Business); Whole genome sequencing; Denmark; Hemoglobinopathies; Enzymopathies; Whole genome sequencing; Membranopathies; Precision diagnostics; Hereditary anemia
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-024-03298-4

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