{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:42:38Z","timestamp":1756381358313,"version":"3.44.0"},"reference-count":15,"publisher":"BMJ","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Reports"],"accepted":{"date-parts":[[2017,12,18]]},"abstract":"<jats:p>A Caucasian 24-year-old female patient suffers from two hereditary disorders: alpha-thalassaemia, which is prevalent in Asia and rare in Europe, and haemochromatosis, which is prevalent among northern Europe and rare in Asia. The clinical presentation and management of one of these diseases is controversial for the other. She presented 5\u2009years ago with a clinical picture of refractory iron-deficiency anaemia secondary to menorrhagia. On treating her with the standard iron therapy, her anaemia persists although with adquate iron stores. This prompted further investigations that revealed in addition to hereditary haemochromatosis, alpha-thalassaemia because of abnormal blood indices. The treatment of thalassaemia with either iron or blood transfusion is not advisable in haemochromatosis, while standard treatment of haemochromatosis with venesection will worsen the anaemia. As iron chelating agents were not approved in Australia for haemochromatosis, haematinics support was commenced with a satisfactory improvement of anaemia thus allowing for further venesection.<\/jats:p>","DOI":"10.1136\/bcr-2017-222700","type":"journal-article","created":{"date-parts":[[2018,1,4]],"date-time":"2018-01-04T04:34:00Z","timestamp":1515040440000},"page":"bcr-2017-222700","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Inherited haemochromatosis with C282Y mutation in a patient with alpha-thalassaemia: a treatment dilemma"],"prefix":"10.1136","volume":"2018","author":[{"given":"Mohammed Abdullah","family":"Al Qasem","sequence":"first","affiliation":[{"name":"Faculty of Health Sciences, University of Tasmania, Launceston, Tasmania, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fayez","family":"Hanna","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, University of Tasmania, Launceston, Tasmania, Australia"},{"name":"Haematology Deparrtment, Specialist Care Australia, Launceston, Tasmania, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Usira S","family":"Vithanarachchi","sequence":"additional","affiliation":[{"name":"Haematology Deparrtment, Specialist Care Australia, Launceston, Tasmania, Australia"},{"name":"Tasmanian Medical Laboratory, Launceston, Tasmania, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2399-3311","authenticated-orcid":false,"given":"Alhossain A","family":"Khalafallah","sequence":"additional","affiliation":[{"name":"Faculty of Health Sciences, University of Tasmania, Launceston, Tasmania, Australia"},{"name":"Menzies Institute for Medical Research, University of Tasmania, Launceston, Tasmania, Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2018,1,4]]},"reference":[{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.1","doi-asserted-by":"crossref","first-page":"1575","DOI":"10.1590\/S0100-879X2006001200008","article-title":"HFE gene mutations in Brazilian thalassemic patients","volume":"39","author":"Oliveira","year":"2006","journal-title":"Braz J Med Biol Res"},{"doi-asserted-by":"crossref","unstructured":"Genc A , Sevgiler Y , Bayram S , et al . The prevalence and genotypes of alpha-thalassemia in Adiyaman: two rare alpha variants: Adiyaman\u2019da alfa-talasemi genotipleri ve sikligi: Iki nadir alfa variant. Turk J Biochem 2016;467.","key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.2","DOI":"10.1515\/tjb-2016-0149"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.3","doi-asserted-by":"crossref","first-page":"344","DOI":"10.4274\/tjh.2014.0204","article-title":"Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The \u0130stanbul Perspective","volume":"32","author":"Karaka\u015f","year":"2015","journal-title":"Turk J Haematol"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.2147\/IJCTM.S105214","article-title":"Clinical management of hemochromatosis: current perspectives","volume":"5","author":"Brissot","year":"2017","journal-title":"Int J Clin Transfus Med"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.5","first-page":"138","article-title":"Detection of \u03b1-thalassemia-1 Southeast Asian and Thai type deletions and \u03b2-thalassemia 3.5-kb deletion by single-tube multiplex real-time PCR with SYBR Green1 and high-resolution melting analysis","volume":"31","author":"Pornprasert","year":"2011","journal-title":"Korean J Lab Med"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.6","first-page":"498","article-title":"Haemoglobinopathies in southeast Asia","volume":"134","author":"Fucharoen","year":"2011","journal-title":"Indian J Med Res"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.7","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1080\/10245332.2016.1148374","article-title":"The prevalence of alpha-thalassemia amongst Tai and Mon-Khmer ethnic groups residing in northern Thailand: A population-based study","volume":"21","author":"Lithanatudom","year":"2016","journal-title":"Hematology"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.8","doi-asserted-by":"crossref","first-page":"2015004","DOI":"10.4084\/mjhid.2015.004","article-title":"Prevalence of alpha thalassemia in microcytic anemia: a tertiary care experience from north India","volume":"7","author":"Sharma","year":"2015","journal-title":"Mediterr J Hematol Infect Dis"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.9","doi-asserted-by":"crossref","first-page":"83","DOI":"10.5455\/tjfmpc.41116","article-title":"Prevalence of Iron, Folic Acid and Vitamin B12 Deficiency in Patients with Thalassemia Minor","volume":"7","author":"Asma","year":"2013","journal-title":"TJFMPC"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1155\/2017\/9826930","article-title":"Diabetes in HFE Hemochromatosis","volume":"2017","author":"Barton","year":"2017","journal-title":"J Diabetes Res"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.11","first-page":"411","article-title":"An update on iron chelation therapy","volume":"10","author":"Poggiali","year":"2012","journal-title":"Blood Transfus"},{"doi-asserted-by":"publisher","key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.12","DOI":"10.1007\/s12185-008-0120-5"},{"doi-asserted-by":"publisher","key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.13","DOI":"10.1016\/S1079-9796(03)00133-5"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.14","doi-asserted-by":"crossref","first-page":"e504","DOI":"10.1016\/S2352-3026(16)30151-X","article-title":"Definition of functional iron deficiency and intravenous iron supplementation - Author\u2019s reply","volume":"3","author":"Khalafallah","year":"2016","journal-title":"Lancet Haematol"},{"key":"2025082804213197000_2018.jan03_3.bcr-2017-222700.15","doi-asserted-by":"crossref","first-page":"e415","DOI":"10.1016\/S2352-3026(16)30078-3","article-title":"Intravenous ferric carboxymaltose versus standard care in the management of postoperative anaemia: a prospective, open-label, randomised controlled trial","volume":"3","author":"Khalafallah","year":"2016","journal-title":"Lancet Haematol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2017-222700","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:21:38Z","timestamp":1756380098000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2017-222700"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1,4]]},"references-count":15,"alternative-id":["10.1136\/bcr-2017-222700"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2017-222700","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2018,1,4]]}}}