{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:02:21Z","timestamp":1756339341295,"version":"3.44.0"},"reference-count":17,"publisher":"BMJ","issue":"9","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2020,9,2]]},"published-print":{"date-parts":[[2020,9]]},"abstract":"<jats:p>Primary haemochromatosis (PH) is a genetic disorder of iron metabolism with multiorgan involvement due to mutations in HFE or more rarely haemojuvelin (HJV) gene. Cardiac involvement results in dilated cardiomyopathy with reduced ejection fraction and progressive heart failure. PH is rarely reported from India and cardiomyopathy due to PH from HJV mutations is thought to be uncommon. We report two families with cardiomyopathy resulting from PH. Diagnosis was suspected on the basis of skin pigmentation, markedly elevated serum ferritin and transferring saturation. Genetic testing revealed a rare mutation in HJV gene in one family. Being a treatable condition, PH should be suspected and investigated in cardiomyopathy patients in Indian subcontinent. If HFE is negative, analysis of non-HFE mutation should always be considered.<\/jats:p>","DOI":"10.1136\/bcr-2020-235650","type":"journal-article","created":{"date-parts":[[2020,9,16]],"date-time":"2020-09-16T17:52:33Z","timestamp":1600278753000},"page":"e235650","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Primary haemochromatosis resulting in dilated cardiomyopathy arising out of mutation in HJV gene in Indian patients: a rare scenario"],"prefix":"10.1136","volume":"13","author":[{"given":"Abhishek","family":"Goyal","sequence":"first","affiliation":[{"name":"Cardiology, Hero DMC heart institute, Dayanand Medical College and Hospital, Ludhiana, Punjab, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bishav","family":"Mohan","sequence":"additional","affiliation":[{"name":"Cardiology, Hero DMC heart institute, Dayanand Medical College and Hospital, Ludhiana, Punjab, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kavita","family":"Saggar","sequence":"additional","affiliation":[{"name":"Radiology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gurpreet Singh","family":"Wander","sequence":"additional","affiliation":[{"name":"Cardiology, Hero DMC heart institute, Dayanand Medical College and Hospital, Ludhiana, Punjab, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,9,16]]},"reference":[{"key":"2025082622502064000_13.9.e235650.1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050549"},{"key":"2025082622502064000_13.9.e235650.2","doi-asserted-by":"crossref","first-page":"2956","DOI":"10.3748\/wjg.v13.i21.2956","article-title":"Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in North India","volume":"13","author":"Dhillon","year":"2007","journal-title":"World J Gastroenterol"},{"key":"2025082622502064000_13.9.e235650.3","doi-asserted-by":"crossref","first-page":"393","DOI":"10.3748\/wjg.v11.i3.393","article-title":"Nonalcoholic steatohepatitis in Asian Indians is neither associated with iron overload nor with HFE gene mutations","volume":"11","author":"Duseja","year":"2005","journal-title":"World J Gastroenterol"},{"key":"2025082622502064000_13.9.e235650.4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1746.2004.03262.x"},{"key":"2025082622502064000_13.9.e235650.5","first-page":"20","article-title":"Hfe, hepcidin and ferroportin gene mutations are not present in Indian patients with primary haemochromatosis","volume":"19","author":"Shukla","year":"2006","journal-title":"Natl Med J India"},{"key":"2025082622502064000_13.9.e235650.6","first-page":"757","article-title":"Pituitary and testicular involvement in primary haemochromatosis. 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