{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T22:57:56Z","timestamp":1776380276933,"version":"3.51.2"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T00:00:00Z","timestamp":1776384000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Familial lecithin-cholesterol acyltransferase (\n                      <jats:italic>LCAT<\/jats:italic>\n                      ) deficiency and \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia are rare autosomal recessive disorders. Although both disease-causing genes reside on chromosome 16, their physical distance typically results in independent inheritance in non-consanguineous populations. Co-inheritance of both conditions has not been previously reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      A 50-year-old Chinese man with childhood-onset corneal opacity and long-standing anemia presented with 2\u00a0months of progressive lower limb edema. Laboratory evaluation revealed nephrotic syndrome and markedly reduced high-density lipoprotein cholesterol (HDL-C). Renal biopsy showed characteristic glomerular lipid deposition, confirming\n                      <jats:italic>LCAT<\/jats:italic>\n                      deficiency. Genetic testing identified a homozygous\n                      <jats:italic>LCAT<\/jats:italic>\n                      mutation (c.355G&amp;gt;C, p.Gly119Arg), with both parents confirmed as heterozygous carriers. The patient had severe microcytic hypochromic anemia that did not fully align with the mild hemolytic anemia typical of\n                      <jats:italic>LCAT<\/jats:italic>\n                      deficiency. Given parental consanguinity, expanded genetic testing revealed co-inheritance of \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia (\n                      <jats:italic>HBA<\/jats:italic>\n                      : -SEA\/\u03b1\u03b1), explaining the hematological phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Outcome<\/jats:title>\n                    <jats:p>\n                      No specific treatment exists for\n                      <jats:italic>LCAT<\/jats:italic>\n                      deficiency. Symptomatic management with angiotensin-converting enzyme inhibitors and diuretics improved edema. The \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia trait is asymptomatic and requires no intervention; its diagnosis avoided unnecessary iron therapy and the associated risk of iron overload. Long-term follow-up will focus on renal function, proteinuria, lipid profile, and ocular findings. Genetic counseling will also be provided to the patient and their family.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      To our knowledge, this is the first reported case of co-inherited\n                      <jats:italic>LCAT<\/jats:italic>\n                      deficiency and \u03b1\n                      <jats:sup>0<\/jats:sup>\n                      -thalassemia confirmed by both renal pathology and comprehensive genetic testing. The consanguineous background suggests possible co-transmission of distant recessive variants on the same chromosome. This case highlights the importance of considering coexisting genetic disorders in patients with consanguinity or unexplained multisystem involvement.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1806855","type":"journal-article","created":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T22:10:15Z","timestamp":1776377415000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: co-inheritance of familial lecithin-cholesterol acyltransferase deficiency and \u03b10-Thalassemia"],"prefix":"10.3389","volume":"17","author":[{"given":"Yinbing","family":"Zhu","sequence":"first","affiliation":[{"name":"Department of Nephrology, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People\u2019s Hospital","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunya","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Nephrology, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People\u2019s Hospital","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenxun","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People\u2019s Hospital","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People\u2019s Hospital","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lingling","family":"Mao","sequence":"additional","affiliation":[{"name":"Department of Nephrology, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People\u2019s Hospital","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Min","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Nephrology, The Quzhou Affiliated Hospital of Wenzhou Medical University, Quzhou People\u2019s Hospital","place":["Quzhou, Zhejiang, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1972","DOI":"10.1161\/01.Atv.0000175751.30616.13","article-title":"The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families","volume":"25","author":"Calabresi","year":"2005","journal-title":"Arterioscler. 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