{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T02:55:05Z","timestamp":1791082505064,"version":"4.1.0"},"reference-count":29,"publisher":"Oxford University Press (OUP)","issue":"3","license":[{"start":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T00:00:00Z","timestamp":1727222400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Cartilage hair hypoplasia (CHH) can lead to the development of anemia as a possible complication of this rare genetic disease. Despite various publications on anemia in CHH patients, a comprehensive review on this topic has not been conducted. This article reviews publications on anemia in CHH patients published from 1981 to 2022. Most authors have reported macrocytic anemia and blood transfusion as a common treatment approach in this patient group. Recommended guidelines for managing anemia in CHH patients include iron chelation therapy for those requiring multiple blood transfusions, regular assessment of anemia symptoms, red blood cell parameters, and immune system function. Future studies should evaluate the erythroid system in a larger cohort of CHH patients, considering key factors such as concurrent illnesses, age, height, and weight.<\/jats:p>","DOI":"10.1093\/labmed\/lmae082","type":"journal-article","created":{"date-parts":[[2024,9,25]],"date-time":"2024-09-25T19:23:50Z","timestamp":1727292230000},"page":"213-219","source":"Crossref","is-referenced-by-count":2,"title":["Anemia in patients with cartilage hair hypoplasia: a narrative review and recommendations"],"prefix":"10.1093","volume":"56","author":[{"given":"Natalia","family":"Lewandowska","sequence":"first","affiliation":[{"name":"Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw , Warsaw ,","place":["Poland"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5652-4397","authenticated-orcid":false,"given":"Michal","family":"Ordak","sequence":"additional","affiliation":[{"name":"Department of Pharmacotherapy and Pharmaceutical Care, Faculty of Pharmacy, Medical University of Warsaw , Warsaw ,","place":["Poland"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,9,25]]},"reference":[{"issue":"9","key":"2025051000264631700_CIT0001","doi-asserted-by":"publisher","first-page":"3080","DOI":"10.1210\/jc.2014-1506","article-title":"Genetic evaluation of short stature","volume":"99","author":"Dauber","year":"2014","journal-title":"J Clin Endocrinol Metab."},{"key":"2025051000264631700_CIT0002","doi-asserted-by":"publisher","first-page":"1011960","DOI":"10.3389\/fendo.2022.1011960","article-title":"Genetic conditions of short stature: a review of three classic","volume":"13","author":"Butler","year":"2022","journal-title":"Front Endocrinol (Lausanne)"},{"issue":"1","key":"2025051000264631700_CIT0003","doi-asserted-by":"publisher","first-page":"49","DOI":"10.17925\/EE.2022.18.1.49","article-title":"Novel insights into the genetic causes of short stature in children","volume":"18","author":"Mastromauro","year":"2022","journal-title":"touchREV Endocrinol."},{"issue":"1","key":"2025051000264631700_CIT0004","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000502231","article-title":"Diagnosis, genetics, and therapy of short stature in children: a Growth Hormone Research Society international perspective","volume":"92","author":"Collett-Solberg","year":"2019","journal-title":"Horm Res Paediatr"},{"issue":"4","key":"2025051000264631700_CIT0005","doi-asserted-by":"publisher","first-page":"e12913","DOI":"10.1111\/sji.12913","article-title":"Immunodeficiency in cartilage-hair hypoplasia: pathogenesis, clinical course and management","volume":"92","author":"Vakkilainen","year":"2020","journal-title":"Scand J Immunol."},{"issue":"2","key":"2025051000264631700_CIT0006","doi-asserted-by":"publisher","first-page":"145","DOI":"10.1007\/s11832-015-0646-z","article-title":"Cartilage hair hypoplasia: characteristics and orthopaedic manifestations","volume":"9","author":"Riley","year":"2015","journal-title":"J Child Orthop"},{"key":"2025051000264631700_CIT0007","doi-asserted-by":"publisher","first-page":"1581","DOI":"10.3389\/fimmu.2019.01581","article-title":"A 30-year prospective follow-up study reveals risk factors for early death in cartilage-hair hypoplasia","volume":"10","author":"Vakkilainen","year":"2019","journal-title":"Front Immunol."},{"issue":"3","key":"2025051000264631700_CIT0008","doi-asserted-by":"publisher","first-page":"468","DOI":"10.3324\/haematol.2018.195552","article-title":"Association of anemia with health-related quality of life and survival: a large population-based cohort study","volume":"104","author":"Wouters","year":"2019","journal-title":"Haematologica."},{"key":"2025051000264631700_CIT0009","doi-asserted-by":"publisher","first-page":"285","DOI":"10.2147\/PROM.S169653","article-title":"Health-related quality of life in patients with iron deficiency anemia: impact of treatment with intravenous iron","volume":"9","author":"Strauss","year":"2018","journal-title":"Patient Relat Outcome Meas"},{"issue":"3","key":"2025051000264631700_CIT0010","doi-asserted-by":"publisher","first-page":"921","DOI":"10.3390\/jcm12030921","article-title":"Association of anemia with clinical symptoms commonly attributed to anemia-analysis of two population-based cohorts","volume":"12","author":"Weckmann","year":"2023","journal-title":"J Clin Med"},{"key":"2025051000264631700_CIT0011","first-page":"1993","article-title":"Cartilage-hair hypoplasia \u2013 anauxetic dysplasia spectrum disorders. 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