{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T12:04:16Z","timestamp":1785326656607,"version":"3.55.0"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,7,29]]},"DOI":"10.7759\/cureus.113577","type":"journal-article","created":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T11:12:32Z","timestamp":1785323552000},"source":"Crossref","is-referenced-by-count":0,"title":["Severe Transfusion-Dependent Infantile Hemolytic Anemia Associated With a Novel Homozygous PKLR Variant of Uncertain Significance (c.1376C&gt;G, p.Ala459Gly) and Coexisting G6PD Deficiency: A Case Report"],"prefix":"10.7759","author":[{"given":"Sara S","family":"Hassanien","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Badriah G","family":"Alasmari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehab","family":"Hanafy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamed","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahlam","family":"Babiker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2005.05527.x","article-title":"Red cell pyruvate kinase deficiency: molecular and clinical aspects","volume":"130","author":"Zanella A","year":"2005","unstructured":"Zanella A, Fermo E, Bianchi P, Valentini G. Red cell pyruvate kinase deficiency: molecular and clinical aspects. Br J Haematol. 2005, 130:11-25. 10.1111\/j.1365-2141.2005.05527.x","journal-title":"Br J Haematol"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20915","article-title":"Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK","volume":"30","author":"van Wijk R","year":"2009","unstructured":"van Wijk R, Huizinga EG, van Wesel AC, van Oirschot BA, Hadders MA, van Solinge WW. Fifteen novel mutations in PKLR associated with pyruvate kinase (PK) deficiency: structural implications of amino acid substitutions in PK. Hum Mutat. 2009, 30:446-53. 10.1002\/humu.20915","journal-title":"Hum Mutat"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.241141","article-title":"Molecular heterogeneity of pyruvate kinase deficiency","volume":"105","author":"Bianchi P","year":"2020","unstructured":"Bianchi P, Fermo E. Molecular heterogeneity of pyruvate kinase deficiency. Haematologica. 2020, 105:2218-28. 10.3324\/haematol.2019.241141","journal-title":"Haematologica"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.15758","article-title":"How we manage patients with pyruvate kinase deficiency","volume":"184","author":"Grace RF","year":"2019","unstructured":"Grace RF, Mark Layton D, Barcellini W. How we manage patients with pyruvate kinase deficiency. Br J Haematol. 2019, 184:721-34. 10.1111\/bjh.15758","journal-title":"Br J Haematol"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/S2352-3026(23)00377-0","article-title":"Diagnosis and management of pyruvate kinase deficiency: international expert guidelines","volume":"11","author":"Al-Samkari H","year":"2024","unstructured":"Al-Samkari H, Shehata N, Lang-Robertson K, et al.. Diagnosis and management of pyruvate kinase deficiency: international expert guidelines. Lancet Haematol. 2024, 11:e228-39. 10.1016\/S2352-3026(23)00377-0","journal-title":"Lancet Haematol"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.5315","article-title":"Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia","volume":"10","author":"Fawaz N","year":"2022","unstructured":"Fawaz N, Beshlawi I, Alqasim A, et al.. Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia. Clin Case Rep. 2022, 10:e05315. 10.1002\/ccr3.5315","journal-title":"Clin Case Rep"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(08)60073-2","article-title":"Glucose-6-phosphate dehydrogenase deficiency","volume":"371","author":"Cappellini MD","year":"2008","unstructured":"Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet. 2008, 371:64-74. 10.1016\/S0140-6736(08)60073-2","journal-title":"Lancet"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007\/s12687-011-0072-y","article-title":"Consanguineous marriages: preconception consultation in primary health care settings","volume":"3","author":"Hamamy H","year":"2012","unstructured":"Hamamy H. Consanguineous marriages: preconception consultation in primary health care settings. J Community Genet. 2012, 3:185-92. 10.1007\/s12687-011-0072-y","journal-title":"J Community Genet"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.196295","article-title":"Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study","volume":"104","author":"van Beers EJ","year":"2019","unstructured":"van Beers EJ, van Straaten S, Morton DH, et al.. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica. 2019, 104:e51-3. 10.3324\/haematol.2018.196295","journal-title":"Haematologica"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa2116634","article-title":"Mitapivat versus placebo for pyruvate kinase deficiency","volume":"386","author":"Al-Samkari H","year":"2022","unstructured":"Al-Samkari H, Galact\u00e9ros F, Glenth\u00f8j A, et al.. Mitapivat versus placebo for pyruvate kinase deficiency. N Engl J Med. 2022, 386:1432-42. 10.1056\/NEJMoa2116634","journal-title":"N Engl J Med"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.molmed.2023.02.005","article-title":"Updates and advances in pyruvate kinase deficiency","volume":"29","author":"Luke N","year":"2023","unstructured":"Luke N, Hillier K, Al-Samkari H, Grace RF. Updates and advances in pyruvate kinase deficiency. Trends Mol Med. 2023, 29:406-18. 10.1016\/j.molmed.2023.02.005","journal-title":"Trends Mol Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/505727-severe-transfusion-dependent-infantile-hemolytic-anemia-associated-with-a-novel-homozygous-pklr-variant-of-uncertain-significance-c1376cg-pala459gly-and-coexisting-g6pd-deficiency-a-case-report","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T11:12:32Z","timestamp":1785323552000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/505727-severe-transfusion-dependent-infantile-hemolytic-anemia-associated-with-a-novel-homozygous-pklr-variant-of-uncertain-significance-c1376cg-pala459gly-and-coexisting-g6pd-deficiency-a-case-report"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,29]]},"references-count":12,"URL":"https:\/\/doi.org\/10.7759\/cureus.113577","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2026,7,29]]}}}