{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T19:10:06Z","timestamp":1756321806044,"version":"3.44.0"},"reference-count":14,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2023,12,27]]},"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:p>We report the case of a man in his 50s with extravascular haemolysis, fluctuating indirect hyperbilirubinaemia, elevated transferrin saturation with hyperferritinaemia and normal liver enzymes. Spherocytes were detected in a blood smear and a mutation of unknown significance, c.1626+1G&gt;A\u2009p.?, in intron 13 of the <jats:italic>SLC4A1<\/jats:italic> gene, was identified by next-generation sequencing (NGS). The same mutation was found in his daughter, who presented with similar laboratory changes, confirming the diagnosis of hereditary spherocytosis. Abdominal MRI showed hepatosplenomegaly with hepatic iron overload. In this context of haemolysis (without anaemia) and iron overload, a diagnosis of haemochromatosis was presumed. NGS confirmed the presence of the variants p.(His63Asp) and p.(Cys282Tyr) in heterozygosity in the <jats:italic>HFE<\/jats:italic> gene. We report this case for the rarity of co-existing two haematological diseases counteracting each other.<\/jats:p>","DOI":"10.1136\/bcr-2023-256891","type":"journal-article","created":{"date-parts":[[2024,1,10]],"date-time":"2024-01-10T01:09:59Z","timestamp":1704848999000},"page":"e256891","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Coinheritance of hereditary spherocytosis with haemochromatosis: next-generation sequencing reveals"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-5151-3259","authenticated-orcid":false,"given":"In\u00eas Hil\u00e1rio","family":"Soldin","sequence":"first","affiliation":[{"name":"Internal Medicine Department, Hospital Pedro Hispano, Matosinhos, Portugal"},{"name":"Portuguese Institute of Oncology of Porto, Francisco Gentil EPE, Porto, Portugal"}]},{"given":"Ana","family":"Ferro","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Hospital Pedro Hispano, Matosinhos, Portugal"}]},{"given":"Yuliana O","family":"Eremina","sequence":"additional","affiliation":[{"name":"Clinical Pathology Department, Hospital Pedro Hispano, Matosinhos, Portugal"},{"name":"University of Porto, Porto, Portugal"}]},{"given":"M\u00e1rio S\u00e9rgio Nascimento","family":"Bibi","sequence":"additional","affiliation":[{"name":"Internal Medicine Department, Hospital Pedro Hispano, Matosinhos, Portugal"}]}],"member":"239","published-online":{"date-parts":[[2024,1,9]]},"reference":[{"key":"2025082711494174000_17.1.e256891.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)61588-3"},{"key":"2025082711494174000_17.1.e256891.2","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1159\/000497175","article-title":"Mild hereditary spherocytosis without accompanying hereditary haemochromatosis: an unrecognised cause of iron overload","volume":"141","author":"Tole","year":"2019","journal-title":"Acta Haematol"},{"key":"2025082711494174000_17.1.e256891.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-002-0432-0"},{"key":"2025082711494174000_17.1.e256891.4","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1186\/2047-783X-14-4-182","article-title":"Coinheritance of hereditary spherocytosis and reversibility of cirrhosis in a young female patient with hereditary hemochromatosis","volume":"14","author":"H\u00f6blinger","year":"2009","journal-title":"Eur J Med Res"},{"key":"2025082711494174000_17.1.e256891.5","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2022.03.033"},{"key":"2025082711494174000_17.1.e256891.6","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.109.192644"},{"key":"2025082711494174000_17.1.e256891.7","unstructured":"Bocchini CA . MJFON. # 612653, Spherocytosis, Type 4. 2009. Available: https:\/\/www.omim.org\/entry\/612653?search=HS%20type%204&highlight=4%20hs%20type"},{"key":"2025082711494174000_17.1.e256891.8","unstructured":"Bacon BR , Phatak P . Clinical manifestations and diagnosis of hereditary hemochromatosis [UpToDate]. 2022. Available: https:\/\/www.uptodate.com\/contents\/clinical-manifestations-and-diagnosis-of-hereditary-hemochromatosis [Accessed Sep 2023]."},{"key":"2025082711494174000_17.1.e256891.9","unstructured":"WC M . Hereditary spherocytosis [UpToDate]. 2021. Available: https:\/\/www.uptodate.com\/contents\/hereditary-spherocytosis [Accessed Sep 2023]."},{"key":"2025082711494174000_17.1.e256891.10","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1002\/kjm2.12198","article-title":"A clinical and experimental study of adult hereditary spherocytosis in the Chinese population","volume":"36","author":"Xue","year":"2020","journal-title":"Kaohsiung J Med Sci"},{"key":"2025082711494174000_17.1.e256891.11","doi-asserted-by":"crossref","DOI":"10.1002\/jcla.24034","article-title":"The diagnostic protocol for hereditary spherocytosis-2021 update","volume":"35","author":"Wu","year":"2021","journal-title":"J Clin Lab Anal"},{"key":"2025082711494174000_17.1.e256891.12","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/ajh.23363","article-title":"Hereditary spherocytosis due to band 3 deficiency: 15 novel mutations in SLC4A1","volume":"88","author":"Van Zwieten","year":"2013","journal-title":"Am J Hematol"},{"key":"2025082711494174000_17.1.e256891.13","doi-asserted-by":"crossref","DOI":"10.1002\/pbc.29729","article-title":"A novel SLC4A1 mutation in a child with hereditary spherocytosis and distal renal tubular acidosis","volume":"69","author":"Giovanni Raimondo","year":"2022","journal-title":"Pediatr Blood Cancer"},{"key":"2025082711494174000_17.1.e256891.14","unstructured":"Porter JL , Rawla P . Hemochromatosis Statpearls. Treasure Island (FL) StatPearls Publishing; 2022. Available: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK430862\/ [Accessed 09 Oct 2022]."}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-256891","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T18:49:48Z","timestamp":1756320588000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-256891"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1]]},"references-count":14,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,1,9]]},"published-print":{"date-parts":[[2024,1]]}},"alternative-id":["10.1136\/bcr-2023-256891"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-256891","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,1]]}}}