{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T22:52:43Z","timestamp":1769554363499,"version":"3.49.0"},"reference-count":28,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Congenital Anaemia Network","award":["1176864"],"award-info":[{"award-number":["1176864"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Congenital dyserythropoietic anaemia type-I (CDA-I) is a rare autosomal recessive disease characterised by ineffective erythropoiesis, haemolysis and non-haematological developmental abnormalities. Its treatment is multifactorial, including the management of anaemia, iron overload and prevention of osteoporosis. The only treatment specific to CDA-I is subcutaneous interferon alpha (IFN\u03b1) 2A. This study presents the first summary of all published cases of CDA-I patients (n = 33) treated with IFN\u03b1 and categorises their outcome. We also present new unpublished cases (n = 7). Overall, we find that IFN\u03b1 administration causes a statistically significant mean increase in haemoglobin of 30.7 g\/L (p &lt; 0.001). However, we note that previous studies do not assess the impact of IFN\u03b1 therapy on providing symptomatic benefit to patients with CDA-I, or the weight of side effects on their quality of life. We collaborate directly with patients through the organisation Congenital Anaemia Network to establish patient preferences regarding IFN\u03b1 treatment. We propose a classification framework for the use of IFN\u03b1 in CDA-I that includes patient-reported outcome measures in addition to grading response according to changes in Hb levels. We believe that the use of this framework will aid standardisation in measuring response to therapy, improve clinical practice and assist in future research.<\/jats:p>","DOI":"10.3390\/jcm15020901","type":"journal-article","created":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T09:21:40Z","timestamp":1769505700000},"page":"901","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Using Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy"],"prefix":"10.3390","volume":"15","author":[{"given":"Karl","family":"Frey","sequence":"first","affiliation":[{"name":"Department of Haematology, Oxford University Hospitals NHS Trust, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK"},{"name":"MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6192-9866","authenticated-orcid":false,"given":"Sanja","family":"Brolih","sequence":"additional","affiliation":[{"name":"Centre for Medicines Discovery, University of Oxford, Oxford OX3 7FZ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Scott","sequence":"additional","affiliation":[{"name":"MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicholas","family":"Fordham","sequence":"additional","affiliation":[{"name":"Evalina Children\u2019s Hospital, St Thomas Hospital, London SE1 7EH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sam","family":"Burrows","sequence":"additional","affiliation":[{"name":"Department of Haematology, University Hospitals Plymouth NHS Trust, Derriford Road, Plymouth PL6 8DH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nyree","family":"Cole","sequence":"additional","affiliation":[{"name":"Epsom and St Helier University Hospitals NHS Trust, Sutton SM5 1AA, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Deem","sequence":"additional","affiliation":[{"name":"Portsmouth University Hospitals NHS Trust, Portsmouth PO6 3LY, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-5743-5894","authenticated-orcid":false,"given":"Christopher","family":"Jenkins","sequence":"additional","affiliation":[{"name":"Aneurin Bevan University Health Board, Newport NP11 5GH, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-2251-2257","authenticated-orcid":false,"given":"Melanie","family":"Proven","sequence":"additional","affiliation":[{"name":"Regional Genetic Laboratory, Oxford University Hospitals NHS Trust, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1898-5878","authenticated-orcid":false,"given":"Christian","family":"Babbs","sequence":"additional","affiliation":[{"name":"MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noemi Bernadette Alice","family":"Roy","sequence":"additional","affiliation":[{"name":"Department of Haematology, Oxford University Hospitals NHS Trust, Churchill Hospital, Old Road, Headington, Oxford OX3 7LE, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1111\/bjh.15817","article-title":"The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I","volume":"185","author":"Roy","year":"2019","journal-title":"Br. 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